TRMT2B (tRNA methyltransferase 2 homolog B) - Rat Genome Database

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Gene: TRMT2B (tRNA methyltransferase 2 homolog B) Homo sapiens
Analyze
Symbol: TRMT2B
Name: tRNA methyltransferase 2 homolog B
RGD ID: 1350620
HGNC Page HGNC:25748
Description: Enables rRNA (uridine-C5-)-methyltransferase activity and tRNA (uracil(54)-C5)-methyltransferase activity, S-adenosyl methionine-dependent. Predicted to be involved in rRNA methylation and tRNA processing. Located in mitochondrial matrix. Is active in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CXorf34; dJ341D10.3; FLJ12687; rRNA (uracil-5-)-methyltransferase TRMT2B; TRM2 homolog; TRM2 homolog B; TRM2 tRNA methyltransferase 2 homolog B; tRNA (uracil(54)-C(5))-methyltransferase homolog; tRNA (uracil-5-)-methyltransferase homolog; tRNA (uracil-5-)-methyltransferase homolog B
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL078645.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X100,973,366 - 101,052,111 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,009,346 - 101,052,116 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,264,339 - 100,307,100 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,151,187 - 100,193,726 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X100,070,692 - 100,113,215NCBI
CeleraX100,783,109 - 100,825,878 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,068,401 - 90,112,076 (-)NCBIHuRef
CHM1_1X100,157,442 - 100,200,214 (-)NCBICHM1_1
T2T-CHM13v2.0X99,416,819 - 99,495,549 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (IDA,IEA)
mitochondrion  (HTP,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:16344560   PMID:25416956   PMID:26186194   PMID:26496610   PMID:27184847   PMID:27229929   PMID:27499296   PMID:28514442   PMID:31091453   PMID:31871319   PMID:31948311  
PMID:32628020   PMID:32877691   PMID:33961781   PMID:34079125   PMID:34556860   PMID:34800366   PMID:37788672   PMID:37874476  


Genomics

Comparative Map Data
TRMT2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X100,973,366 - 101,052,111 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,009,346 - 101,052,116 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,264,339 - 100,307,100 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,151,187 - 100,193,726 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X100,070,692 - 100,113,215NCBI
CeleraX100,783,109 - 100,825,878 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,068,401 - 90,112,076 (-)NCBIHuRef
CHM1_1X100,157,442 - 100,200,214 (-)NCBICHM1_1
T2T-CHM13v2.0X99,416,819 - 99,495,549 (-)NCBIT2T-CHM13v2.0
Trmt2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,123,704 - 133,177,770 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX133,123,088 - 133,177,733 (-)EnsemblGRCm39 Ensembl
GRCm38X134,222,955 - 134,277,023 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,222,339 - 134,276,984 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,757,494 - 130,811,523 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X129,569,305 - 129,623,290 (-)NCBIMGSCv36mm8
CeleraX117,099,787 - 117,155,672 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX55.95NCBI
Trmt2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X101,716,656 - 101,777,105 (-)NCBIGRCr8
mRatBN7.2X97,425,712 - 97,483,821 (-)NCBImRatBN7.2mRatBN7.2
Rnor_6.0X105,056,890 - 105,114,876 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X104,954,402 - 104,996,021 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,694,841 - 121,745,024 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX98,467,198 - 98,525,152 (-)NCBICelera
Cytogenetic MapXq32NCBI
TRMT2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X100,607,508 - 100,650,697 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X100,611,112 - 100,654,304 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X90,210,740 - 90,253,863 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X100,347,795 - 100,389,981 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,347,795 - 100,389,981 (-)Ensemblpanpan1.1panPan2
TRMT2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X74,921,406 - 75,001,373 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,361,015 - 76,406,690 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X73,929,590 - 73,974,787 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X75,589,853 - 75,634,947 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X75,352,421 - 75,397,722 (-)NCBIUU_Cfam_GSD_1.0
Trmt2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,344,143 - 63,381,368 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493681394,441 - 129,010 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493681393,738 - 130,928 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRMT2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,690,392 - 82,735,521 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,638,456 - 82,741,659 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X90,777,612 - 90,810,528 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRMT2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,259,251 - 89,391,444 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX89,354,510 - 89,382,861 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606514,273,687 - 14,312,223 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in TRMT2B
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.1(chrX:100665849-101051159)x2 copy number gain See cases [RCV000054229] ChrX:100665849..101051159 [GRCh38]
ChrX:99920846..100306148 [GRCh37]
ChrX:99807502..100192804 [NCBI36]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23		 pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3		 pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 copy number gain not provided [RCV000996091] ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2 copy number gain not provided [RCV000848726] ChrX:98987165..100421459 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99943376-100476729)x2 copy number gain not provided [RCV000849738] ChrX:99943376..100476729 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100074893-100454200)x3 copy number gain not provided [RCV001007328] ChrX:100074893..100454200 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_001162491.2(ARL13A):c.349G>C (p.Asp117His) single nucleotide variant Neurodevelopmental disorder [RCV001262664] ChrX:100985885 [GRCh38]
ChrX:100240874 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_024917.6(TRMT2B):c.917T>C (p.Phe306Ser) single nucleotide variant not specified [RCV004684979] ChrX:101021250 [GRCh38]
ChrX:100276239 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_99917153)_(100662891_?)dup duplication Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001871045] ChrX:99917153..100662891 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99842716-100570618) copy number gain not specified [RCV002053163] ChrX:99842716..100570618 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_99551275)_(100663464_?)del deletion Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)del deletion not provided [RCV003113386] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100118775-100510437)x2 copy number gain not provided [RCV002475861] ChrX:100118775..100510437 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.278G>A (p.Arg93Lys) single nucleotide variant not specified [RCV004163661] ChrX:101041342 [GRCh38]
ChrX:100296331 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.484C>G (p.Arg162Gly) single nucleotide variant not specified [RCV004120270] ChrX:101037028 [GRCh38]
ChrX:100292017 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.725T>C (p.Ile242Thr) single nucleotide variant not specified [RCV004227592] ChrX:101023501 [GRCh38]
ChrX:100278490 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.341T>G (p.Leu114Arg) single nucleotide variant not specified [RCV004188550] ChrX:101038014 [GRCh38]
ChrX:100293003 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.449A>G (p.Asn150Ser) single nucleotide variant not specified [RCV004336720] ChrX:101037063 [GRCh38]
ChrX:100292052 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.862C>T (p.Arg288Cys) single nucleotide variant not specified [RCV004344025] ChrX:101021305 [GRCh38]
ChrX:100276294 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100078029-100451296)x2 copy number gain not provided [RCV003483970] ChrX:100078029..100451296 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_024917.6(TRMT2B):c.694C>T (p.Arg232Cys) single nucleotide variant not specified [RCV004468437] ChrX:101023532 [GRCh38]
ChrX:100278521 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1 copy number loss not provided [RCV004819415] ChrX:92712119..129831493 [GRCh37]
ChrX:Xq21.32-26.1		 pathogenic
NM_024917.6(TRMT2B):c.431T>C (p.Ile144Thr) single nucleotide variant not specified [RCV004883315] ChrX:101037924 [GRCh38]
ChrX:100292913 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.1103G>A (p.Arg368Gln) single nucleotide variant not specified [RCV004883316] ChrX:101020552 [GRCh38]
ChrX:100275541 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_024917.6(TRMT2B):c.1141G>A (p.Asp381Asn) single nucleotide variant not specified [RCV004883318] ChrX:101020514 [GRCh38]
ChrX:100275503 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.2-22.3(chrX:84607697-104579525)x1 copy number loss not provided [RCV004819413] ChrX:84607697..104579525 [GRCh37]
ChrX:Xq21.2-22.3		 pathogenic
GRCh37/hg19 Xq21.31-23(chrX:91004293-111532472)x1 copy number loss not provided [RCV004819414] ChrX:91004293..111532472 [GRCh37]
ChrX:Xq21.31-23		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99858344-100577181)x3 copy number gain not provided [RCV004819697] ChrX:99858344..100577181 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.25C>G (p.Pro9Ala) single nucleotide variant not specified [RCV004883319] ChrX:101042265 [GRCh38]
ChrX:100297254 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99858343-100348232)x3 copy number gain not provided [RCV001259486] ChrX:99858343..100348232 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_024917.6(TRMT2B):c.944G>T (p.Arg315Leu) single nucleotide variant not specified [RCV004105929] ChrX:101021223 [GRCh38]
ChrX:100276212 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.876G>T (p.Gln292His) single nucleotide variant not specified [RCV004161949] ChrX:101021291 [GRCh38]
ChrX:100276280 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.782T>C (p.Ile261Thr) single nucleotide variant not specified [RCV004359515] ChrX:101022037 [GRCh38]
ChrX:100277026 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_024917.6(TRMT2B):c.1252A>G (p.Ile418Val) single nucleotide variant not specified [RCV004468434] ChrX:101019320 [GRCh38]
ChrX:100274309 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_024917.6(TRMT2B):c.365A>G (p.Asn122Ser) single nucleotide variant not specified [RCV004468435] ChrX:101037990 [GRCh38]
ChrX:100292979 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.511G>C (p.Val171Leu) single nucleotide variant not specified [RCV004468436] ChrX:101037001 [GRCh38]
ChrX:100291990 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(100515610_?)dup duplication not provided [RCV004580623] ChrX:99551275..100515610 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_024917.6(TRMT2B):c.1067G>A (p.Gly356Asp) single nucleotide variant not specified [RCV004883317] ChrX:101020588 [GRCh38]
ChrX:100275577 [GRCh37]
ChrX:Xq22.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5345
Count of miRNA genes:943
Interacting mature miRNAs:1127
Transcripts:ENST00000338687, ENST00000372931, ENST00000372935, ENST00000372936, ENST00000372939, ENST00000478422, ENST00000488615, ENST00000545398
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH102886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,264,388 - 100,264,516UniSTSGRCh37
Build 36X100,151,044 - 100,151,172RGDNCBI36
CeleraX100,783,163 - 100,783,291RGD
Cytogenetic MapXq22.1UniSTS
HuRefX90,068,455 - 90,068,583UniSTS
GeneMap99-GB4 RH MapX271.91UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4973 1726 2351 5 624 1951 465 2269 7303 6471 53 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI222705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG747665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA391184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA454040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372935   ⟹   ENSP00000362026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,009,542 - 101,052,070 (-)Ensembl
Ensembl Acc Id: ENST00000372936   ⟹   ENSP00000362027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,009,350 - 101,052,111 (-)Ensembl
Ensembl Acc Id: ENST00000372939   ⟹   ENSP00000362030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,009,350 - 101,052,054 (-)Ensembl
Ensembl Acc Id: ENST00000478422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,023,586 - 101,052,082 (-)Ensembl
Ensembl Acc Id: ENST00000488615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,035,623 - 101,037,539 (-)Ensembl
Ensembl Acc Id: ENST00000545398   ⟹   ENSP00000438134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,009,346 - 101,052,116 (-)Ensembl
RefSeq Acc Id: NM_001167970   ⟹   NP_001161442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
GRCh37X100,264,334 - 100,307,105 (-)RGD
CeleraX100,783,109 - 100,825,878 (-)RGD
HuRefX90,068,401 - 90,112,076 (-)RGD
CHM1_1X100,157,442 - 100,200,214 (-)NCBI
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001167971   ⟹   NP_001161443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
GRCh37X100,264,334 - 100,307,105 (-)RGD
CeleraX100,783,109 - 100,825,878 (-)RGD
HuRefX90,068,401 - 90,112,076 (-)RGD
CHM1_1X100,157,442 - 100,200,214 (-)NCBI
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001167972   ⟹   NP_001161444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
GRCh37X100,264,334 - 100,307,105 (-)RGD
CeleraX100,783,109 - 100,825,878 (-)RGD
HuRefX90,068,401 - 90,112,076 (-)RGD
CHM1_1X100,157,442 - 100,200,214 (-)NCBI
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024917   ⟹   NP_079193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
GRCh37X100,264,334 - 100,307,105 (-)RGD
Build 36X100,151,187 - 100,193,726 (-)NCBI Archive
CeleraX100,783,109 - 100,825,878 (-)RGD
HuRefX90,068,401 - 90,112,076 (-)RGD
CHM1_1X100,157,442 - 100,200,214 (-)NCBI
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262196   ⟹   XP_005262253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
GRCh37X100,264,334 - 100,307,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262201   ⟹   XP_005262258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
GRCh37X100,264,334 - 100,307,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531042   ⟹   XP_011529344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029865   ⟹   XP_016885354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029870   ⟹   XP_016885359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,052,111 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442532   ⟹   XP_047298488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,051,736 (-)NCBI
RefSeq Acc Id: XM_047442533   ⟹   XP_047298489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,051,637 (-)NCBI
RefSeq Acc Id: XM_047442534   ⟹   XP_047298490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,009,350 - 101,051,637 (-)NCBI
RefSeq Acc Id: XM_054327907   ⟹   XP_054183882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,174 (-)NCBI
RefSeq Acc Id: XM_054327908   ⟹   XP_054183883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
RefSeq Acc Id: XM_054327909   ⟹   XP_054183884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,075 (-)NCBI
RefSeq Acc Id: XM_054327910   ⟹   XP_054183885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
RefSeq Acc Id: XM_054327911   ⟹   XP_054183886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
RefSeq Acc Id: XM_054327912   ⟹   XP_054183887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,075 (-)NCBI
RefSeq Acc Id: XM_054327913   ⟹   XP_054183888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
RefSeq Acc Id: XM_054327914   ⟹   XP_054183889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,452,774 - 99,495,549 (-)NCBI
RefSeq Acc Id: XR_001755729
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,973,366 - 101,051,637 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008485507
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,416,819 - 99,495,075 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001161442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161444 (Get FASTA)   NCBI Sequence Viewer  
  NP_079193 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262253 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262258 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529344 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885354 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885359 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298488 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298489 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183886 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183887 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183888 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183889 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH07526 (Get FASTA)   NCBI Sequence Viewer  
  AAH08067 (Get FASTA)   NCBI Sequence Viewer  
  AAH09437 (Get FASTA)   NCBI Sequence Viewer  
  AAH20116 (Get FASTA)   NCBI Sequence Viewer  
  AAH34272 (Get FASTA)   NCBI Sequence Viewer  
  BAB14223 (Get FASTA)   NCBI Sequence Viewer  
  BAG38128 (Get FASTA)   NCBI Sequence Viewer  
  CAI46112 (Get FASTA)   NCBI Sequence Viewer  
  EAX02831 (Get FASTA)   NCBI Sequence Viewer  
  EAX02832 (Get FASTA)   NCBI Sequence Viewer  
  EAX02833 (Get FASTA)   NCBI Sequence Viewer  
  EAX02834 (Get FASTA)   NCBI Sequence Viewer  
  EAX02835 (Get FASTA)   NCBI Sequence Viewer  
  EAX02836 (Get FASTA)   NCBI Sequence Viewer  
  EAX02837 (Get FASTA)   NCBI Sequence Viewer  
  EAX02838 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362026
  ENSP00000362026.1
  ENSP00000362027
  ENSP00000362027.3
  ENSP00000362030
  ENSP00000362030.1
  ENSP00000438134
  ENSP00000438134.1
GenBank Protein Q96GJ1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079193   ⟸   NM_024917
- Peptide Label: isoform a
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161442   ⟸   NM_001167970
- Peptide Label: isoform a
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161443   ⟸   NM_001167971
- Peptide Label: isoform b
- UniProtKB: B2RE31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161444   ⟸   NM_001167972
- Peptide Label: isoform a
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262253   ⟸   XM_005262196
- Peptide Label: isoform X1
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262258   ⟸   XM_005262201
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529344   ⟸   XM_011531042
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885354   ⟸   XM_017029865
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885359   ⟸   XM_017029870
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000362026   ⟸   ENST00000372935
Ensembl Acc Id: ENSP00000362027   ⟸   ENST00000372936
Ensembl Acc Id: ENSP00000362030   ⟸   ENST00000372939
Ensembl Acc Id: ENSP00000438134   ⟸   ENST00000545398
RefSeq Acc Id: XP_047298488   ⟸   XM_047442532
- Peptide Label: isoform X1
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298490   ⟸   XM_047442534
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047298489   ⟸   XM_047442533
- Peptide Label: isoform X2
- UniProtKB: B2RE31 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183883   ⟸   XM_054327908
- Peptide Label: isoform X1
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183888   ⟸   XM_054327913
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183889   ⟸   XM_054327914
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054183886   ⟸   XM_054327911
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183885   ⟸   XM_054327910
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183882   ⟸   XM_054327907
- Peptide Label: isoform X1
- UniProtKB: Q96IH9 (UniProtKB/Swiss-Prot),   Q96HU7 (UniProtKB/Swiss-Prot),   Q96GJ1 (UniProtKB/Swiss-Prot),   Q5JVY6 (UniProtKB/Swiss-Prot),   Q5JPF0 (UniProtKB/Swiss-Prot),   A6NMG6 (UniProtKB/Swiss-Prot),   A6NEI9 (UniProtKB/Swiss-Prot),   A6NDG5 (UniProtKB/Swiss-Prot),   Q9H9K2 (UniProtKB/Swiss-Prot),   B2RE31 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183887   ⟸   XM_054327912
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183884   ⟸   XM_054327909
- Peptide Label: isoform X2
- UniProtKB: B2RE31 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96GJ1-F1-model_v2 AlphaFold Q96GJ1 1-504 view protein structure

Promoters
RGD ID:6808660
Promoter ID:HG_KWN:67486
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338687,   ENST00000372931,   NM_001167970,   NM_001167971,   NM_001167972,   NM_024917,   OTTHUMT00000057511,   OTTHUMT00000057514,   UC004EGP.1,   UC004EGS.1,   UC004EGU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,193,259 - 100,193,759 (-)MPROMDB
RGD ID:13627608
Promoter ID:EPDNEW_H29079
Type:initiation region
Name:TRMT2B_1
Description:tRNA methyltransferase 2 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,052,111 - 101,052,171EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25748 AgrOrtholog
COSMIC TRMT2B COSMIC
Ensembl Genes ENSG00000188917 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372935 ENTREZGENE
  ENST00000372935.5 UniProtKB/Swiss-Prot
  ENST00000372936 ENTREZGENE
  ENST00000372936.4 UniProtKB/Swiss-Prot
  ENST00000372939 ENTREZGENE
  ENST00000372939.5 UniProtKB/Swiss-Prot
  ENST00000545398 ENTREZGENE
  ENST00000545398.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.1070 UniProtKB/Swiss-Prot
  3.40.50.150 UniProtKB/Swiss-Prot
GTEx ENSG00000188917 GTEx
HGNC ID HGNC:25748 ENTREZGENE
Human Proteome Map TRMT2B Human Proteome Map
InterPro SAM-dependent_MTases UniProtKB/Swiss-Prot
  TRM2_euk UniProtKB/Swiss-Prot
  tRNA_(uracil-5-)_MeTrfase_met UniProtKB/Swiss-Prot
  U5_MeTrfase_fam UniProtKB/Swiss-Prot
KEGG Report hsa:79979 UniProtKB/Swiss-Prot
NCBI Gene 79979 ENTREZGENE
OMIM 301128 OMIM
PANTHER PTHR45904 UniProtKB/Swiss-Prot
  TRNA (URACIL(54)-C(5))-METHYLTRANSFERASE HOMOLOG UniProtKB/Swiss-Prot
Pfam tRNA_U5-meth_tr UniProtKB/Swiss-Prot
PharmGKB PA164726782 PharmGKB
PROSITE SAM_MT_RNA_M5U UniProtKB/Swiss-Prot
  SAM_MT_RNA_M5U_1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt A6NDG5 ENTREZGENE
  A6NEI9 ENTREZGENE
  A6NMG6 ENTREZGENE
  B2RE31 ENTREZGENE, UniProtKB/TrEMBL
  Q5JPF0 ENTREZGENE
  Q5JVY6 ENTREZGENE
  Q96GJ1 ENTREZGENE
  Q96HU7 ENTREZGENE
  Q96IH9 ENTREZGENE
  Q9H9K2 ENTREZGENE
  TRM2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NDG5 UniProtKB/Swiss-Prot
  A6NEI9 UniProtKB/Swiss-Prot
  A6NMG6 UniProtKB/Swiss-Prot
  Q5JPF0 UniProtKB/Swiss-Prot
  Q5JVY6 UniProtKB/Swiss-Prot
  Q96HU7 UniProtKB/Swiss-Prot
  Q96IH9 UniProtKB/Swiss-Prot
  Q9H9K2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-09-29 TRMT2B  tRNA methyltransferase 2 homolog B  TRMT2B  tRNA methyltransferase 2 homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-06-19 TRMT2B  tRNA methyltransferase 2 homolog B (S. cerevisiae)  TRMT2B  TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED