SCMH1 (Scm polycomb group protein homolog 1) - Rat Genome Database

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Gene: SCMH1 (Scm polycomb group protein homolog 1) Homo sapiens
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Symbol: SCMH1
Name: Scm polycomb group protein homolog 1
RGD ID: 1314031
HGNC Page HGNC:19003
Description: Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in heterochromatin formation and negative regulation of DNA-templated transcription. Predicted to act upstream of or within anterior/posterior pattern specification; chromatin remodeling; and spermatogenesis. Predicted to be located in nucleoplasm. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: polycomb protein SCMH1; Scml3; sex comb on midleg homolog 1; sex comb on midleg homolog 1 (Drosophila)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38141,027,202 - 41,242,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl141,027,202 - 41,242,306 (-)Ensemblhg38GRCh38
GRCh37141,492,874 - 41,707,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36141,265,461 - 41,480,375 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34141,161,969 - 41,376,881NCBI
Celera139,775,792 - 39,990,782 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef139,609,958 - 39,825,006 (-)NCBIHuRef
CHM1_1141,608,779 - 41,823,761 (-)NCBICHM1_1
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10524249   PMID:10653359   PMID:12167701   PMID:12477932   PMID:14702039   PMID:14973489   PMID:15489334   PMID:16169070   PMID:16710414   PMID:16713569   PMID:17081983   PMID:18391952  
PMID:18650381   PMID:19266077   PMID:20211142   PMID:20546612   PMID:20881960   PMID:21653829   PMID:21873635   PMID:22325352   PMID:23563607   PMID:24457600   PMID:24981860   PMID:25416956  
PMID:26496610   PMID:28514442   PMID:30554943   PMID:32296183   PMID:33961781   PMID:35906200   PMID:36089195  


Genomics

Comparative Map Data
SCMH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38141,027,202 - 41,242,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl141,027,202 - 41,242,306 (-)Ensemblhg38GRCh38
GRCh37141,492,874 - 41,707,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36141,265,461 - 41,480,375 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34141,161,969 - 41,376,881NCBI
Celera139,775,792 - 39,990,782 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef139,609,958 - 39,825,006 (-)NCBIHuRef
CHM1_1141,608,779 - 41,823,761 (-)NCBICHM1_1
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBIT2T-CHM13v2.0
Scmh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394120,262,347 - 120,387,397 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4120,262,478 - 120,387,383 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm384120,405,150 - 120,530,200 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4120,405,281 - 120,530,186 (+)Ensemblmm10GRCm38
MGSCv374120,077,886 - 120,202,804 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364119,903,044 - 120,027,590 (+)NCBIMGSCv36mm8
Celera4119,122,290 - 119,247,186 (+)NCBICelera
Cytogenetic Map4D2.1NCBI
cM Map456.52NCBI
Scmh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85139,276,352 - 139,401,118 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5139,314,447 - 139,403,081 (+)EnsemblGRCr8
mRatBN7.25133,991,167 - 134,115,893 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5133,990,520 - 134,122,105 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5136,757,225 - 136,843,663 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05138,513,679 - 138,600,119 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05138,534,308 - 138,620,740 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05139,379,256 - 139,466,805 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5139,385,429 - 139,466,081 (+)Ensemblrn6Rnor6.0
Rnor_5.05143,162,751 - 143,249,837 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45141,039,645 - 141,127,334 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5132,585,181 - 132,671,540 (+)NCBICelera
RGSC_v3.15141,006,241 - 141,132,777 (+)NCBI
Cytogenetic Map5q36NCBI
Scmh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955537824,828 - 937,324 (-)Ensembl
ChiLan1.0NW_004955537819,209 - 971,297 (-)NCBIChiLan1.0ChiLan1.0
SCMH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21185,571,699 - 185,788,728 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11184,713,709 - 184,930,344 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0140,323,101 - 40,540,236 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1141,639,127 - 41,809,094 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl141,639,127 - 41,776,261 (-)EnsemblpanPan2panpan1.1
SCMH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1151,917,503 - 2,056,325 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl151,917,509 - 2,058,904 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha152,138,061 - 2,315,655 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0151,969,172 - 2,146,826 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl151,969,227 - 2,146,822 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1151,874,915 - 2,052,478 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0151,934,876 - 2,112,665 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0151,950,439 - 2,128,033 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Scmh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505856,818,076 - 56,959,576 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647422,647,334 - 22,774,405 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647422,648,156 - 22,784,399 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCMH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6169,999,792 - 170,189,353 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.16169,999,763 - 170,189,357 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26157,208,869 - 157,236,957 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCMH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12091,724,068 - 91,890,131 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2091,751,977 - 91,889,164 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603324,991,230 - 25,217,051 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scmh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624892435,459 - 550,941 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624892435,145 - 621,203 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SCMH1
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 copy number loss See cases [RCV000050706] Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 copy number loss See cases [RCV000053805] Chr1:38108665..42327551 [GRCh38]
Chr1:38574337..42793222 [GRCh37]
Chr1:38346924..42565809 [NCBI36]
Chr1:1p34.3-34.2		 pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 copy number loss See cases [RCV000053837] Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
NM_001031694.2(SCMH1):c.1762C>T (p.Arg588Trp) single nucleotide variant Malignant melanoma [RCV000064765] Chr1:41028679 [GRCh38]
Chr1:41494351 [GRCh37]
Chr1:41266938 [NCBI36]
Chr1:1p34.2		 not provided
NM_001031694.2(SCMH1):c.1468+496T>G single nucleotide variant Lung cancer [RCV000090827] Chr1:41045911 [GRCh38]
Chr1:41511583 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1 copy number loss See cases [RCV000234876] Chr1:41343608..43121507 [GRCh37]
Chr1:1p34.2		 likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 copy number loss See cases [RCV000142267] Chr1:40834404..43123071 [GRCh38]
Chr1:41300076..43588742 [GRCh37]
Chr1:41072663..43361329 [NCBI36]
Chr1:1p34.2		 pathogenic
GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1 copy number loss See cases [RCV000240178] Chr1:40944820..42213560 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p34.2(chr1:41086977-41670357)x3 copy number gain See cases [RCV000446308] Chr1:41086977..41670357 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001394311.1(SCMH1):c.1413T>A (p.Asn471Lys) single nucleotide variant not specified [RCV004318880] Chr1:41046492 [GRCh38]
Chr1:41512164 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001394311.1(SCMH1):c.947C>G (p.Pro316Arg) single nucleotide variant not specified [RCV004295374] Chr1:41075250 [GRCh38]
Chr1:41540922 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_001394311.1(SCMH1):c.862G>A (p.Gly288Arg) single nucleotide variant not specified [RCV004305170] Chr1:41075335 [GRCh38]
Chr1:41541007 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292) copy number loss not specified [RCV002053269] Chr1:38679545..42556292 [GRCh37]
Chr1:1p34.3-34.2		 likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NC_000001.10:g.(?_41474523)_(41510926_?)del deletion Severe combined immunodeficiency due to CTPS1 deficiency [RCV001916487] Chr1:41474523..41510926 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1012G>A (p.Ala338Thr) single nucleotide variant not specified [RCV004161113] Chr1:41070688 [GRCh38]
Chr1:41536360 [GRCh37]
Chr1:1p34.2		 likely benign
NM_001394311.1(SCMH1):c.748G>T (p.Val250Leu) single nucleotide variant not specified [RCV004228642] Chr1:41075449 [GRCh38]
Chr1:41541121 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1276A>C (p.Lys426Gln) single nucleotide variant not specified [RCV004162761] Chr1:41048720 [GRCh38]
Chr1:41514392 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1751A>G (p.Asp584Gly) single nucleotide variant not specified [RCV004083450] Chr1:41028720 [GRCh38]
Chr1:41494392 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1889A>G (p.Glu630Gly) single nucleotide variant not specified [RCV004210469] Chr1:41028318 [GRCh38]
Chr1:41493990 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.373A>G (p.Asn125Asp) single nucleotide variant not specified [RCV004113891] Chr1:41142917 [GRCh38]
Chr1:41608589 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1366G>A (p.Val456Ile) single nucleotide variant not specified [RCV004243593] Chr1:41046539 [GRCh38]
Chr1:41512211 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.107-948G>C single nucleotide variant not specified [RCV004221506] Chr1:41152632 [GRCh38]
Chr1:41618304 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.428C>T (p.Ala143Val) single nucleotide variant not specified [RCV004194525] Chr1:41116995 [GRCh38]
Chr1:41582667 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1499G>T (p.Gly500Val) single nucleotide variant not specified [RCV004114929] Chr1:41037541 [GRCh38]
Chr1:41503213 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1558A>G (p.Met520Val) single nucleotide variant not specified [RCV004075382] Chr1:41037482 [GRCh38]
Chr1:41503154 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1531C>T (p.Arg511Cys) single nucleotide variant not specified [RCV004075372] Chr1:41037509 [GRCh38]
Chr1:41503181 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1483G>A (p.Asp495Asn) single nucleotide variant not specified [RCV004075425] Chr1:41046422 [GRCh38]
Chr1:41512094 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1444C>T (p.His482Tyr) single nucleotide variant not specified [RCV004259304] Chr1:41046461 [GRCh38]
Chr1:41512133 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1628G>A (p.Cys543Tyr) single nucleotide variant not specified [RCV004270000] Chr1:41037412 [GRCh38]
Chr1:41503084 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.458C>A (p.Thr153Lys) single nucleotide variant not specified [RCV004345904] Chr1:41116965 [GRCh38]
Chr1:41582637 [GRCh37]
Chr1:1p34.2		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_001394311.1(SCMH1):c.1668A>G (p.Leu556=) single nucleotide variant not provided [RCV003406403] Chr1:41037372 [GRCh38]
Chr1:41503044 [GRCh37]
Chr1:1p34.2		 likely benign
GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1 copy number loss not provided [RCV003885447] Chr1:40688246..42630383 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1462A>G (p.Ile488Val) single nucleotide variant not specified [RCV004452855] Chr1:41046443 [GRCh38]
Chr1:41512115 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1643G>A (p.Ser548Asn) single nucleotide variant not specified [RCV004452857] Chr1:41037397 [GRCh38]
Chr1:41503069 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1991G>A (p.Arg664Gln) single nucleotide variant not specified [RCV004452860] Chr1:41028216 [GRCh38]
Chr1:41493888 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1003C>G (p.Pro335Ala) single nucleotide variant not specified [RCV004452866] Chr1:41070697 [GRCh38]
Chr1:41536369 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1196G>A (p.Arg399His) single nucleotide variant not specified [RCV004452853] Chr1:41048800 [GRCh38]
Chr1:41514472 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1769G>T (p.Arg590Leu) single nucleotide variant not specified [RCV004452859] Chr1:41028702 [GRCh38]
Chr1:41494374 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.668G>A (p.Arg223His) single nucleotide variant not specified [RCV004452864] Chr1:41113360 [GRCh38]
Chr1:41579032 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.746T>C (p.Val249Ala) single nucleotide variant not specified [RCV004452865] Chr1:41075451 [GRCh38]
Chr1:41541123 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1613C>T (p.Pro538Leu) single nucleotide variant not specified [RCV004452856] Chr1:41037427 [GRCh38]
Chr1:41503099 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.474G>T (p.Glu158Asp) single nucleotide variant not specified [RCV004452863] Chr1:41116949 [GRCh38]
Chr1:41582621 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1764G>T (p.Glu588Asp) single nucleotide variant not specified [RCV004452858] Chr1:41028707 [GRCh38]
Chr1:41494379 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1261G>A (p.Val421Ile) single nucleotide variant not specified [RCV004452854] Chr1:41048735 [GRCh38]
Chr1:41514407 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1793G>A (p.Arg598Gln) single nucleotide variant not specified [RCV004674567] Chr1:41028678 [GRCh38]
Chr1:41494350 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1769G>A (p.Arg590His) single nucleotide variant not specified [RCV004858935] Chr1:41028702 [GRCh38]
Chr1:41494374 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.518C>G (p.Ser173Cys) single nucleotide variant not specified [RCV004858936] Chr1:41113510 [GRCh38]
Chr1:41579182 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1837C>T (p.Arg613Trp) single nucleotide variant not specified [RCV004858934] Chr1:41028634 [GRCh38]
Chr1:41494306 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.875G>T (p.Gly292Val) single nucleotide variant not specified [RCV004858937] Chr1:41075322 [GRCh38]
Chr1:41540994 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.596T>C (p.Ile199Thr) single nucleotide variant not specified [RCV005268040] Chr1:41113432 [GRCh38]
Chr1:41579104 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.181T>A (p.Tyr61Asn) single nucleotide variant not specified [RCV005268047] Chr1:41143109 [GRCh38]
Chr1:41608781 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.802A>C (p.Ile268Leu) single nucleotide variant not specified [RCV005268039] Chr1:41075395 [GRCh38]
Chr1:41541067 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.2001G>C (p.Gln667His) single nucleotide variant not specified [RCV005268041] Chr1:41028206 [GRCh38]
Chr1:41493878 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1102A>G (p.Thr368Ala) single nucleotide variant not specified [RCV005268046] Chr1:41070598 [GRCh38]
Chr1:41536270 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.160G>T (p.Val54Phe) single nucleotide variant not specified [RCV005268045] Chr1:41151631 [GRCh38]
Chr1:41617303 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1660C>T (p.Arg554Cys) single nucleotide variant not specified [RCV005268042] Chr1:41037380 [GRCh38]
Chr1:41503052 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.667C>T (p.Arg223Cys) single nucleotide variant not specified [RCV005268048] Chr1:41113361 [GRCh38]
Chr1:41579033 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001394311.1(SCMH1):c.1654G>A (p.Ala552Thr) single nucleotide variant not specified [RCV005268044] Chr1:41037386 [GRCh38]
Chr1:41503058 [GRCh37]
Chr1:1p34.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:9376
Count of miRNA genes:1002
Interacting mature miRNAs:1222
Transcripts:ENST00000326197, ENST00000337495, ENST00000361191, ENST00000361705, ENST00000372595, ENST00000372596, ENST00000372597, ENST00000397171, ENST00000397174, ENST00000402904, ENST00000456518, ENST00000460215, ENST00000472037, ENST00000482530, ENST00000488592, ENST00000489421, ENST00000498793
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597075351GWAS1171425_Hintelligence QTL GWAS1171425 (human)4e-08intelligence14102813941028140Human
597234200GWAS1330274_Happendicular lean mass QTL GWAS1330274 (human)0.000004body lean mass (VT:0010483)14107523041075231Human
597607962GWAS1664822_Hbody weight QTL GWAS1664822 (human)4e-16body mass (VT:0001259)body weight (CMO:0000012)14107860741078608Human
597611033GWAS1667893_Hbody weight QTL GWAS1667893 (human)8e-29body mass (VT:0001259)body weight (CMO:0000012)14107860741078608Human
597608593GWAS1665453_Hbody weight QTL GWAS1665453 (human)2e-26body mass (VT:0001259)body weight (CMO:0000012)14107860741078608Human
597033223GWAS1129297_Hlean body mass QTL GWAS1129297 (human)2e-25body mass (VT:0001259)body weight (CMO:0000012)14107860741078608Human
596954245GWAS1073764_Hbody mass index QTL GWAS1073764 (human)4e-10body mass index14108181941081820Human
597227020GWAS1323094_Hatrial fibrillation QTL GWAS1323094 (human)3e-10atrial fibrillation14107860741078608Human
407004118GWAS653094_Hintelligence QTL GWAS653094 (human)0.0000004intelligence14117480541174806Human
597198990GWAS1295064_Hlean body mass QTL GWAS1295064 (human)1e-37body lean mass (VT:0010483)total body lean mass (CMO:0003950)14107860741078608Human
597329794GWAS1425868_Hsexual dimorphism measurement QTL GWAS1425868 (human)1e-08sexual dimorphism measurement14110797441107975Human
597233920GWAS1329994_Happendicular lean mass QTL GWAS1329994 (human)1e-13body lean mass (VT:0010483)14107523041075231Human
597033527GWAS1129601_Hlean body mass QTL GWAS1129601 (human)6e-19body lean mass (VT:0010483)total body lean mass (CMO:0003950)14107860741078608Human
597591101GWAS1647961_Hatrial fibrillation QTL GWAS1647961 (human)9e-12atrial fibrillation14107860741078608Human
597328048GWAS1424122_Hsexual dimorphism measurement QTL GWAS1424122 (human)9e-17sexual dimorphism measurement14107860741078608Human
597033913GWAS1129987_Hrisk-taking behaviour QTL GWAS1129987 (human)2e-09exploratory behavior trait (VT:0010471)14107860741078608Human
597618865GWAS1675725_Hbody weight QTL GWAS1675725 (human)4e-13body mass (VT:0001259)body weight (CMO:0000012)14107860741078608Human
597186607GWAS1282681_Hforced expiratory volume QTL GWAS1282681 (human)1e-18lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)14106519941065200Human
597590057GWAS1646917_Hatrial fibrillation QTL GWAS1646917 (human)7e-12atrial fibrillation14107860741078608Human
597115296GWAS1211370_Hmathematical ability QTL GWAS1211370 (human)5e-13cognitive behavior trait (VT:0010450)14115805641158057Human
597085867GWAS1181941_Hplatelet count QTL GWAS1181941 (human)4e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)14110478741104788Human
597212454GWAS1308528_Hmathematical ability QTL GWAS1308528 (human)2e-16cognitive behavior trait (VT:0010450)14106868541068686Human
596975403GWAS1094922_Hbody height QTL GWAS1094922 (human)2e-88body height14107860741078608Human
597291431GWAS1387505_Hbody mass index QTL GWAS1387505 (human)4e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)14108181941081820Human
597199271GWAS1295345_Hlean body mass QTL GWAS1295345 (human)8e-32body lean mass (VT:0010483)total body lean mass (CMO:0003950)14117931541179317Human
597335770GWAS1431844_Hatrial fibrillation QTL GWAS1431844 (human)1e-10atrial fibrillation14107860741078608Human
597619292GWAS1676152_Hbody weight QTL GWAS1676152 (human)1e-12body mass (VT:0001259)body weight (CMO:0000012)14108453041084531Human
597115476GWAS1211550_Hcognitive function measurement QTL GWAS1211550 (human)3e-13cognitive behavior trait (VT:0010450)14106868541068686Human
597288029GWAS1384103_Hbody weight QTL GWAS1384103 (human)6e-17body mass (VT:0001259)body weight (CMO:0000012)14108181941081820Human
597195228GWAS1291302_Hplatelet count QTL GWAS1291302 (human)1e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)14124056041240561Human
597060049GWAS1156123_Hvital capacity QTL GWAS1156123 (human)9e-09lung capacity (VT:0001942)14104400241044003Human
597206096GWAS1302170_Hmathematical ability QTL GWAS1302170 (human)4e-09cognitive behavior trait (VT:0010450)14106868541068686Human
597058268GWAS1154342_Hage at menarche QTL GWAS1154342 (human)8e-08estrous cycle trait (VT:0001927)14121389441213895Human
597239893GWAS1335967_Happendicular lean mass QTL GWAS1335967 (human)9e-60body lean mass (VT:0010483)14107860741078608Human
597239892GWAS1335966_Happendicular lean mass QTL GWAS1335966 (human)6e-18body lean mass (VT:0010483)14107523041075231Human
597343572GWAS1439646_Hvital capacity QTL GWAS1439646 (human)2e-11lung capacity (VT:0001942)14107860741078608Human
597278285GWAS1374359_Hdiet measurement QTL GWAS1374359 (human)4e-08eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)14107860741078608Human
597338830GWAS1434904_Hsexual dimorphism measurement QTL GWAS1434904 (human)6e-14sexual dimorphism measurement14107860741078608Human
406921236GWAS570212_Hlean body mass QTL GWAS570212 (human)0.0000002body lean mass (VT:0010483)total body lean mass (CMO:0003950)14107860741078608Human
597111488GWAS1207562_Hmathematical ability QTL GWAS1207562 (human)5e-17cognitive behavior trait (VT:0010450)14106868541068686Human
597304514GWAS1400588_Hcolorectal cancer QTL GWAS1400588 (human)0.0000003colorectal cancer14109741441097415Human
597343299GWAS1439373_Hsexual dimorphism measurement QTL GWAS1439373 (human)1e-08sexual dimorphism measurement14110776441107765Human
597423098GWAS1519172_Hatrial fibrillation QTL GWAS1519172 (human)1e-09atrial fibrillation14107860741078608Human
597329912GWAS1425986_Hsexual dimorphism measurement QTL GWAS1425986 (human)1e-09sexual dimorphism measurement14112732641127327Human
597338233GWAS1434307_Haging QTL GWAS1434307 (human)0.0000006aging14123493541234936Human
597122939GWAS1219013_Hcognitive function measurement, self reported educational attainment QTL GWAS1219013 (human)4e-09cognitive behavior trait (VT:0010450)14104416241044163Human
597257335GWAS1353409_Hcardioembolic stroke QTL GWAS1353409 (human)1e-08joint integrity trait (VT:0010548)14107860741078608Human
597340148GWAS1436222_Hsexual dimorphism measurement QTL GWAS1436222 (human)2e-17sexual dimorphism measurement14110478741104788Human
597611756GWAS1668616_Hplatelet count QTL GWAS1668616 (human)3e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)14107284441072845Human
597116770GWAS1212844_Hself reported educational attainment QTL GWAS1212844 (human)4e-10self reported educational attainment14106868541068686Human
597039968GWAS1136042_Hrisk-taking behaviour QTL GWAS1136042 (human)2e-08exploratory behavior trait (VT:0010471)14107860741078608Human
597190638GWAS1286712_Hsexual dimorphism measurement QTL GWAS1286712 (human)1e-10sexual dimorphism measurement14110776441107765Human
597185382GWAS1281456_Hvital capacity QTL GWAS1281456 (human)2e-28lung capacity (VT:0001942)14106519941065200Human

Markers in Region
D1S2722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,553,470 - 41,553,666UniSTSGRCh37
Build 36141,326,057 - 41,326,253RGDNCBI36
Celera139,836,431 - 39,836,629RGD
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map1p34UniSTS
HuRef139,670,524 - 39,670,736UniSTS
Marshfield Genetic Map172.59UniSTS
Marshfield Genetic Map172.59RGD
Genethon Genetic Map173.7UniSTS
deCODE Assembly Map165.77UniSTS
RH79952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,632,555 - 41,632,686UniSTSGRCh37
Build 36141,405,142 - 41,405,273RGDNCBI36
Celera139,915,520 - 39,915,651RGD
Cytogenetic Map1p34UniSTS
HuRef139,749,744 - 39,749,875UniSTS
GeneMap99-GB4 RH Map1141.56UniSTS
RH98352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,545,001 - 41,545,121UniSTSGRCh37
Build 36141,317,588 - 41,317,708RGDNCBI36
Celera139,827,962 - 39,828,082RGD
Cytogenetic Map1p34UniSTS
HuRef139,662,050 - 39,662,170UniSTS
GeneMap99-GB4 RH Map1125.31UniSTS
G43043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,492,955 - 41,493,249UniSTSGRCh37
Build 36141,265,542 - 41,265,836RGDNCBI36
Celera139,775,876 - 39,776,170RGD
Cytogenetic Map1p34UniSTS
HuRef139,610,042 - 39,610,336UniSTS
G59927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,497,867 - 41,498,069UniSTSGRCh37
Build 36141,270,454 - 41,270,656RGDNCBI36
Celera139,780,788 - 39,780,990RGD
Cytogenetic Map1p34UniSTS
HuRef139,614,954 - 39,615,156UniSTS
G60187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,492,951 - 41,493,079UniSTSGRCh37
Build 36141,265,538 - 41,265,666RGDNCBI36
Celera139,775,872 - 39,776,000RGD
Cytogenetic Map1p34UniSTS
HuRef139,610,038 - 39,610,166UniSTS
SCMH1_2142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,492,789 - 41,493,622UniSTSGRCh37
Build 36141,265,376 - 41,266,209RGDNCBI36
Celera139,775,710 - 39,776,543RGD
HuRef139,609,876 - 39,610,709UniSTS
G27473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,492,903 - 41,493,025UniSTSGRCh37
Build 36141,265,490 - 41,265,612RGDNCBI36
Celera139,775,824 - 39,775,946RGD
Cytogenetic Map1p34UniSTS
HuRef139,609,990 - 39,610,112UniSTS
Whitehead-RH Map1121.4UniSTS
D1S327E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,503,150 - 41,503,212UniSTSGRCh37
Build 36141,275,737 - 41,275,799RGDNCBI36
Celera139,786,071 - 39,786,133RGD
Cytogenetic Map1p34UniSTS
HuRef139,620,237 - 39,620,299UniSTS
SHGC-74647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,574,667 - 41,574,788UniSTSGRCh37
Build 36141,347,254 - 41,347,375RGDNCBI36
Celera139,857,629 - 39,857,750RGD
Cytogenetic Map1p34UniSTS
HuRef139,691,749 - 39,691,870UniSTS
GeneMap99-GB4 RH Map1121.34UniSTS
NCBI RH Map1288.2UniSTS
SHGC-44348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,596,448 - 41,596,552UniSTSGRCh37
Build 36141,369,035 - 41,369,139RGDNCBI36
Celera139,879,415 - 39,879,519RGD
Cytogenetic Map1p34UniSTS
SHGC-74660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,492,945 - 41,493,123UniSTSGRCh37
Build 36141,265,532 - 41,265,710RGDNCBI36
Celera139,775,866 - 39,776,044RGD
Cytogenetic Map1p34UniSTS
HuRef139,610,032 - 39,610,210UniSTS
GeneMap99-GB4 RH Map1125.31UniSTS
NCBI RH Map1292.7UniSTS
AL009711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,585,617 - 41,585,804UniSTSGRCh37
Build 36141,358,204 - 41,358,391RGDNCBI36
Celera139,868,586 - 39,868,773RGD
Cytogenetic Map1p34UniSTS
HuRef139,702,708 - 39,702,895UniSTS
SHGC-74656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,492,955 - 41,493,120UniSTSGRCh37
Build 36141,265,542 - 41,265,707RGDNCBI36
Celera139,775,876 - 39,776,041RGD
Cytogenetic Map1p34UniSTS
HuRef139,610,042 - 39,610,207UniSTS
GeneMap99-GB4 RH Map1124.58UniSTS
NCBI RH Map1292.7UniSTS
SHGC-74648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,602,851 - 41,603,050UniSTSGRCh37
Build 36141,375,438 - 41,375,637RGDNCBI36
Celera139,885,818 - 39,886,017RGD
Cytogenetic Map1p34UniSTS
HuRef139,720,050 - 39,720,249UniSTS
GeneMap99-GB4 RH Map1124.58UniSTS
G54630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,497,844 - 41,498,070UniSTSGRCh37
Celera139,780,765 - 39,780,991UniSTS
Cytogenetic Map1p34UniSTS
HuRef139,614,931 - 39,615,157UniSTS


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 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001031694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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  XR_001737054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007096354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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  XR_008485963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA912153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF149045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF149046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG024566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX420965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000326197   ⟹   ENSP00000318094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,160,898 (-)Ensembl
Ensembl Acc Id: ENST00000337495   ⟹   ENSP00000337352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,242,110 (-)Ensembl
Ensembl Acc Id: ENST00000361191   ⟹   ENSP00000354656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,200 - 41,161,481 (-)Ensembl
Ensembl Acc Id: ENST00000361705   ⟹   ENSP00000354996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,200 - 41,161,481 (-)Ensembl
Ensembl Acc Id: ENST00000372595   ⟹   ENSP00000361676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,163,017 (-)Ensembl
Ensembl Acc Id: ENST00000372596   ⟹   ENSP00000361677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,242,116 (-)Ensembl
Ensembl Acc Id: ENST00000372597   ⟹   ENSP00000361678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,242,116 (-)Ensembl
Ensembl Acc Id: ENST00000397171   ⟹   ENSP00000380356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,200 - 41,161,481 (-)Ensembl
Ensembl Acc Id: ENST00000397174   ⟹   ENSP00000380359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,200 - 41,152,674 (-)Ensembl
Ensembl Acc Id: ENST00000402904   ⟹   ENSP00000386079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,200 - 41,161,433 (-)Ensembl
Ensembl Acc Id: ENST00000456518   ⟹   ENSP00000403974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,028,192 - 41,159,871 (-)Ensembl
Ensembl Acc Id: ENST00000460215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,028,584 - 41,045,836 (-)Ensembl
Ensembl Acc Id: ENST00000472037   ⟹   ENSP00000479881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,204 - 41,037,452 (-)Ensembl
Ensembl Acc Id: ENST00000482530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,041,422 - 41,070,631 (-)Ensembl
Ensembl Acc Id: ENST00000488592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,185,984 - 41,242,154 (-)Ensembl
Ensembl Acc Id: ENST00000489421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,037,362 - 41,048,760 (-)Ensembl
Ensembl Acc Id: ENST00000498793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,028,642 - 41,046,669 (-)Ensembl
Ensembl Acc Id: ENST00000695335   ⟹   ENSP00000511813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,242,306 (-)Ensembl
Ensembl Acc Id: ENST00000695336   ⟹   ENSP00000511814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,222 - 41,186,202 (-)Ensembl
Ensembl Acc Id: ENST00000695337   ⟹   ENSP00000511815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,028,712 - 41,159,868 (-)Ensembl
Ensembl Acc Id: ENST00000850937   ⟹   ENSP00000521018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,242,306 (-)Ensembl
Ensembl Acc Id: ENST00000850938   ⟹   ENSP00000521019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,027,202 - 41,242,306 (-)Ensembl
RefSeq Acc Id: NM_001031694   ⟹   NP_001026864
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Build 36141,265,461 - 41,399,633 (-)NCBI Archive
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,743,053 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172218   ⟹   NP_001165689
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,823,761 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172219   ⟹   NP_001165690
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,823,761 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172220   ⟹   NP_001165691
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,823,761 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172221   ⟹   NP_001165692
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,744,638 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172222   ⟹   NP_001165693
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,743,053 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350667   ⟹   NP_001337596
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350668   ⟹   NP_001337597
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394299   ⟹   NP_001381228
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394300   ⟹   NP_001381229
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394301   ⟹   NP_001381230
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394302   ⟹   NP_001381231
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394303   ⟹   NP_001381232
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394304   ⟹   NP_001381233
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394305   ⟹   NP_001381234
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394306   ⟹   NP_001381235
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394307   ⟹   NP_001381236
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394308   ⟹   NP_001381237
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394309   ⟹   NP_001381238
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394311   ⟹   NP_001381240
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012236   ⟹   NP_036368
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
GRCh37141,492,871 - 41,707,815 (-)RGD
Build 36141,265,464 - 41,480,375 (-)NCBI Archive
Celera139,775,792 - 39,990,782 (-)RGD
HuRef139,609,958 - 39,825,006 (-)ENTREZGENE
CHM1_1141,608,779 - 41,823,761 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135092
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
CHM1_1141,608,779 - 41,743,053 (-)NCBI
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541034   ⟹   XP_011539336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541040   ⟹   XP_011539342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,041,422 - 41,242,306 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449564   ⟹   XP_047305520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_047449565   ⟹   XP_047305521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_047449567   ⟹   XP_047305523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,186,250 (-)NCBI
RefSeq Acc Id: XM_047449568   ⟹   XP_047305524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_047449577   ⟹   XP_047305533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,186,250 (-)NCBI
RefSeq Acc Id: XM_047449578   ⟹   XP_047305534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,186,250 (-)NCBI
RefSeq Acc Id: XM_047449583   ⟹   XP_047305539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,160,903 (-)NCBI
RefSeq Acc Id: XM_047449587   ⟹   XP_047305543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,034,056 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_047449588   ⟹   XP_047305544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,034,056 - 41,186,250 (-)NCBI
RefSeq Acc Id: XM_047449589   ⟹   XP_047305545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_047449591   ⟹   XP_047305547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,027,202 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_047449601   ⟹   XP_047305557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,037,455 - 41,242,306 (-)NCBI
RefSeq Acc Id: XM_054335219   ⟹   XP_054191194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335220   ⟹   XP_054191195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335221   ⟹   XP_054191196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,055,693 (-)NCBI
RefSeq Acc Id: XM_054335222   ⟹   XP_054191197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335223   ⟹   XP_054191198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335224   ⟹   XP_054191199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,055,693 (-)NCBI
RefSeq Acc Id: XM_054335225   ⟹   XP_054191200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,055,693 (-)NCBI
RefSeq Acc Id: XM_054335226   ⟹   XP_054191201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,030,345 (-)NCBI
RefSeq Acc Id: XM_054335227   ⟹   XP_054191202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,903,390 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335228   ⟹   XP_054191203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,903,421 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335229   ⟹   XP_054191204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,903,421 - 41,055,693 (-)NCBI
RefSeq Acc Id: XM_054335230   ⟹   XP_054191205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335231   ⟹   XP_054191206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,896,567 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335232   ⟹   XP_054191207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,910,832 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335233   ⟹   XP_054191208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,915,128 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335234   ⟹   XP_054191209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,915,128 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335235   ⟹   XP_054191210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,915,128 - 41,111,749 (-)NCBI
RefSeq Acc Id: XM_054335236   ⟹   XP_054191211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,906,888 - 41,111,749 (-)NCBI
RefSeq Acc Id: XR_002959761
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,037,455 - 41,242,306 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007096354
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,037,453 - 41,242,306 (-)NCBI
RefSeq Acc Id: XR_007096355
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,041,422 - 41,242,306 (-)NCBI
RefSeq Acc Id: XR_007096358
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,041,422 - 41,242,306 (-)NCBI
RefSeq Acc Id: XR_007096359
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,041,422 - 41,242,306 (-)NCBI
RefSeq Acc Id: XR_008485963
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0140,906,869 - 41,111,749 (-)NCBI
RefSeq Acc Id: XR_946584
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,028,673 - 41,242,306 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001026864 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165689 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165691 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165692 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165693 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337596 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337597 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381228 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381229 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381230 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381231 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381232 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381233 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381234 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381235 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381236 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381237 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381238 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381240 (Get FASTA)   NCBI Sequence Viewer  
  NP_036368 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539336 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539342 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305520 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305521 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305523 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305524 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305533 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305534 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305539 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305543 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305544 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305547 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191194 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191195 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191196 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191211 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF01150 (Get FASTA)   NCBI Sequence Viewer  
  AAF01151 (Get FASTA)   NCBI Sequence Viewer  
  AAH09752 (Get FASTA)   NCBI Sequence Viewer  
  AAH21252 (Get FASTA)   NCBI Sequence Viewer  
  BAG51159 (Get FASTA)   NCBI Sequence Viewer  
  BAG61370 (Get FASTA)   NCBI Sequence Viewer  
  BAG63008 (Get FASTA)   NCBI Sequence Viewer  
  CAE45840 (Get FASTA)   NCBI Sequence Viewer  
  CAG33442 (Get FASTA)   NCBI Sequence Viewer  
  EAX07181 (Get FASTA)   NCBI Sequence Viewer  
  EAX07182 (Get FASTA)   NCBI Sequence Viewer  
  EAX07183 (Get FASTA)   NCBI Sequence Viewer  
  EAX07184 (Get FASTA)   NCBI Sequence Viewer  
  EAX07185 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318094
  ENSP00000318094.7
  ENSP00000337352
  ENSP00000337352.5
  ENSP00000361676
  ENSP00000361676.1
  ENSP00000361677
  ENSP00000361677.1
  ENSP00000361678
  ENSP00000361678.1
  ENSP00000403974
  ENSP00000403974.2
  ENSP00000511813
  ENSP00000511814
  ENSP00000511815
  ENSP00000521019
GenBank Protein Q96GD3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036368   ⟸   NM_012236
- Peptide Label: isoform b
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165689   ⟸   NM_001172218
- Peptide Label: isoform c
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165690   ⟸   NM_001172219
- Peptide Label: isoform d
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165691   ⟸   NM_001172220
- Peptide Label: isoform c
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165692   ⟸   NM_001172221
- Peptide Label: isoform e
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001026864   ⟸   NM_001031694
- Peptide Label: isoform a
- UniProtKB: Q9UKM5 (UniProtKB/Swiss-Prot),   Q8WU48 (UniProtKB/Swiss-Prot),   Q6IAJ4 (UniProtKB/Swiss-Prot),   Q5VT76 (UniProtKB/Swiss-Prot),   B4DRQ8 (UniProtKB/Swiss-Prot),   Q9UKM6 (UniProtKB/Swiss-Prot),   Q96GD3 (UniProtKB/Swiss-Prot),   B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165693   ⟸   NM_001172222
- Peptide Label: isoform f
- UniProtKB: Q96GD3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539336   ⟸   XM_011541034
- Peptide Label: isoform X4
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539342   ⟸   XM_011541040
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001337596   ⟸   NM_001350667
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001337597   ⟸   NM_001350668
- Peptide Label: isoform h
- Sequence:
Ensembl Acc Id: ENSP00000361676   ⟸   ENST00000372595
Ensembl Acc Id: ENSP00000361678   ⟸   ENST00000372597
Ensembl Acc Id: ENSP00000361677   ⟸   ENST00000372596
Ensembl Acc Id: ENSP00000354656   ⟸   ENST00000361191
Ensembl Acc Id: ENSP00000354996   ⟸   ENST00000361705
Ensembl Acc Id: ENSP00000337352   ⟸   ENST00000337495
Ensembl Acc Id: ENSP00000403974   ⟸   ENST00000456518
Ensembl Acc Id: ENSP00000386079   ⟸   ENST00000402904
Ensembl Acc Id: ENSP00000318094   ⟸   ENST00000326197
Ensembl Acc Id: ENSP00000479881   ⟸   ENST00000472037
Ensembl Acc Id: ENSP00000380359   ⟸   ENST00000397174
Ensembl Acc Id: ENSP00000380356   ⟸   ENST00000397171
RefSeq Acc Id: NP_001381238   ⟸   NM_001394309
- Peptide Label: isoform l
RefSeq Acc Id: NP_001381230   ⟸   NM_001394301
- Peptide Label: isoform a
- UniProtKB: Q9UKM5 (UniProtKB/Swiss-Prot),   Q96GD3 (UniProtKB/Swiss-Prot),   Q8WU48 (UniProtKB/Swiss-Prot),   Q6IAJ4 (UniProtKB/Swiss-Prot),   Q5VT76 (UniProtKB/Swiss-Prot),   B4DRQ8 (UniProtKB/Swiss-Prot),   Q9UKM6 (UniProtKB/Swiss-Prot),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381237   ⟸   NM_001394308
- Peptide Label: isoform k
- UniProtKB: A0A8Q3SHR9 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381240   ⟸   NM_001394311
- Peptide Label: isoform m
- UniProtKB: A0A8Q3SHN2 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381233   ⟸   NM_001394304
- Peptide Label: isoform i
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381236   ⟸   NM_001394307
- Peptide Label: isoform j
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381232   ⟸   NM_001394303
- Peptide Label: isoform e
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381235   ⟸   NM_001394306
- Peptide Label: isoform i
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381228   ⟸   NM_001394299
- Peptide Label: isoform i
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381229   ⟸   NM_001394300
- Peptide Label: isoform a
- UniProtKB: Q9UKM5 (UniProtKB/Swiss-Prot),   Q96GD3 (UniProtKB/Swiss-Prot),   Q8WU48 (UniProtKB/Swiss-Prot),   Q6IAJ4 (UniProtKB/Swiss-Prot),   Q5VT76 (UniProtKB/Swiss-Prot),   B4DRQ8 (UniProtKB/Swiss-Prot),   Q9UKM6 (UniProtKB/Swiss-Prot),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381234   ⟸   NM_001394305
- Peptide Label: isoform i
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381231   ⟸   NM_001394302
- Peptide Label: isoform a
- UniProtKB: Q9UKM5 (UniProtKB/Swiss-Prot),   Q96GD3 (UniProtKB/Swiss-Prot),   Q8WU48 (UniProtKB/Swiss-Prot),   Q6IAJ4 (UniProtKB/Swiss-Prot),   Q5VT76 (UniProtKB/Swiss-Prot),   B4DRQ8 (UniProtKB/Swiss-Prot),   Q9UKM6 (UniProtKB/Swiss-Prot),   B3KMZ7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000511814   ⟸   ENST00000695336
Ensembl Acc Id: ENSP00000511815   ⟸   ENST00000695337
Ensembl Acc Id: ENSP00000511813   ⟸   ENST00000695335
RefSeq Acc Id: XP_047305547   ⟸   XM_047449591
- Peptide Label: isoform X10
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305545   ⟸   XM_047449589
- Peptide Label: isoform X9
- UniProtKB: A0A8Q3SHR9 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305524   ⟸   XM_047449568
- Peptide Label: isoform X3
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305520   ⟸   XM_047449564
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SHN2 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305521   ⟸   XM_047449565
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SHN2 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305523   ⟸   XM_047449567
- Peptide Label: isoform X2
- UniProtKB: Q9UKM5 (UniProtKB/Swiss-Prot),   Q96GD3 (UniProtKB/Swiss-Prot),   Q8WU48 (UniProtKB/Swiss-Prot),   Q6IAJ4 (UniProtKB/Swiss-Prot),   Q5VT76 (UniProtKB/Swiss-Prot),   B4DRQ8 (UniProtKB/Swiss-Prot),   Q9UKM6 (UniProtKB/Swiss-Prot),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305533   ⟸   XM_047449577
- Peptide Label: isoform X5
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305534   ⟸   XM_047449578
- Peptide Label: isoform X6
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305539   ⟸   XM_047449583
- Peptide Label: isoform X6
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305543   ⟸   XM_047449587
- Peptide Label: isoform X7
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305544   ⟸   XM_047449588
- Peptide Label: isoform X8
- UniProtKB: B4DWE6 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305557   ⟸   XM_047449601
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054191206   ⟸   XM_054335231
- Peptide Label: isoform X10
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191198   ⟸   XM_054335223
- Peptide Label: isoform X4
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191205   ⟸   XM_054335230
- Peptide Label: isoform X9
- UniProtKB: A0A8Q3SHR9 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191197   ⟸   XM_054335222
- Peptide Label: isoform X3
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191194   ⟸   XM_054335219
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SHN2 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191195   ⟸   XM_054335220
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SHN2 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191196   ⟸   XM_054335221
- Peptide Label: isoform X2
- UniProtKB: Q9UKM5 (UniProtKB/Swiss-Prot),   Q96GD3 (UniProtKB/Swiss-Prot),   Q8WU48 (UniProtKB/Swiss-Prot),   Q6IAJ4 (UniProtKB/Swiss-Prot),   Q5VT76 (UniProtKB/Swiss-Prot),   B4DRQ8 (UniProtKB/Swiss-Prot),   Q9UKM6 (UniProtKB/Swiss-Prot),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191199   ⟸   XM_054335224
- Peptide Label: isoform X5
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191200   ⟸   XM_054335225
- Peptide Label: isoform X6
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191201   ⟸   XM_054335226
- Peptide Label: isoform X6
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191202   ⟸   XM_054335227
- Peptide Label: isoform X13
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191203   ⟸   XM_054335228
- Peptide Label: isoform X7
- UniProtKB: B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191204   ⟸   XM_054335229
- Peptide Label: isoform X8
- UniProtKB: B4DWE6 (UniProtKB/TrEMBL),   B3KMZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191211   ⟸   XM_054335236
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054191207   ⟸   XM_054335232
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054191208   ⟸   XM_054335233
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054191210   ⟸   XM_054335235
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054191209   ⟸   XM_054335234
- Peptide Label: isoform X15
Ensembl Acc Id: ENSP00000521019   ⟸   ENST00000850938
Ensembl Acc Id: ENSP00000521018   ⟸   ENST00000850937
Protein Domains
Polycomb group protein RNA binding region   SAM   SLED

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96GD3-F1-model_v2 AlphaFold Q96GD3 1-660 view protein structure

Promoters
RGD ID:6855148
Promoter ID:EPDNEW_H739
Type:initiation region
Name:SCMH1_2
Description:sex comb on midleg homolog 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H740  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,164,418 - 41,164,478EPDNEW
RGD ID:6855150
Promoter ID:EPDNEW_H740
Type:initiation region
Name:SCMH1_1
Description:sex comb on midleg homolog 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H739  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,242,119 - 41,242,179EPDNEW
RGD ID:6786797
Promoter ID:HG_KWN:2254
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001172222
Position:
Human AssemblyChrPosition (strand)Source
Build 36141,398,801 - 41,399,301 (-)MPROMDB
RGD ID:6786550
Promoter ID:HG_KWN:2258
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001172218,   NM_001172219,   NM_001172220,   NM_012236,   OTTHUMT00000015625,   OTTHUMT00000015626,   OTTHUMT00000015662
Position:
Human AssemblyChrPosition (strand)Source
Build 36141,479,511 - 41,480,762 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19003 AgrOrtholog
COSMIC SCMH1 COSMIC
Ensembl Genes ENSG00000010803 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000326197 ENTREZGENE
  ENST00000326197.11 UniProtKB/Swiss-Prot
  ENST00000337495 ENTREZGENE
  ENST00000337495.9 UniProtKB/Swiss-Prot
  ENST00000372595 ENTREZGENE
  ENST00000372595.5 UniProtKB/Swiss-Prot
  ENST00000372596 ENTREZGENE
  ENST00000372596.5 UniProtKB/Swiss-Prot
  ENST00000372597 ENTREZGENE
  ENST00000372597.5 UniProtKB/Swiss-Prot
  ENST00000456518 ENTREZGENE
  ENST00000456518.3 UniProtKB/Swiss-Prot
  ENST00000695335 ENTREZGENE
  ENST00000695336 ENTREZGENE
  ENST00000695337 ENTREZGENE
  ENST00000850937 ENTREZGENE
  ENST00000850938 ENTREZGENE
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot
  2.30.30.140 UniProtKB/Swiss-Prot
  3.90.1150.190 UniProtKB/Swiss-Prot
GTEx ENSG00000010803 GTEx
HGNC ID HGNC:19003 ENTREZGENE
Human Proteome Map SCMH1 Human Proteome Map
InterPro Mbt UniProtKB/Swiss-Prot
  MBT_SCMH1_rpt1 UniProtKB/Swiss-Prot
  MBT_SCMH1_rpt2 UniProtKB/Swiss-Prot
  PcG_chromatin_remod_factors UniProtKB/Swiss-Prot
  SAM UniProtKB/Swiss-Prot
  SAM/pointed_sf UniProtKB/Swiss-Prot
  SAM_Scm-like UniProtKB/Swiss-Prot
  SCML2_RBR UniProtKB/Swiss-Prot
  SLED UniProtKB/Swiss-Prot
  SLED_sf UniProtKB/Swiss-Prot
KEGG Report hsa:22955 UniProtKB/Swiss-Prot
NCBI Gene 22955 ENTREZGENE
OMIM 616396 OMIM
PANTHER POLYCOMB GROUP PROTEIN UniProtKB/Swiss-Prot
  POLYCOMB PROTEIN SCMH1 UniProtKB/Swiss-Prot
Pfam MBT UniProtKB/Swiss-Prot
  RBR UniProtKB/Swiss-Prot
  SAM_1 UniProtKB/Swiss-Prot
  SLED UniProtKB/Swiss-Prot
PharmGKB PA134870272 PharmGKB
PROSITE MBT UniProtKB/Swiss-Prot
  SAM_DOMAIN UniProtKB/Swiss-Prot
SMART MBT UniProtKB/Swiss-Prot
  SAM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot
  Tudor/PWWP/MBT UniProtKB/Swiss-Prot
UniProt A0A087WW29_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHN2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SHR9 ENTREZGENE, UniProtKB/TrEMBL
  B3KMZ7 ENTREZGENE, UniProtKB/TrEMBL
  B4DRQ8 ENTREZGENE
  B4DWE6 ENTREZGENE, UniProtKB/TrEMBL
  Q5VT76 ENTREZGENE
  Q6IAJ4 ENTREZGENE
  Q8WU48 ENTREZGENE
  Q96GD3 ENTREZGENE
  Q9UKM5 ENTREZGENE
  Q9UKM6 ENTREZGENE
  SCMH1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DRQ8 UniProtKB/Swiss-Prot
  Q5VT76 UniProtKB/Swiss-Prot
  Q6IAJ4 UniProtKB/Swiss-Prot
  Q8WU48 UniProtKB/Swiss-Prot
  Q9UKM5 UniProtKB/Swiss-Prot
  Q9UKM6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-27 SCMH1  Scm polycomb group protein homolog 1    sex comb on midleg homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED