ZNF692 (zinc finger protein 692) - Rat Genome Database

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Gene: ZNF692 (zinc finger protein 692) Homo sapiens
Analyze
Symbol: ZNF692
Name: zinc finger protein 692
RGD ID: 1604343
HGNC Page HGNC:26049
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of gluconeogenesis. Located in nucleolus and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AICAR responsive element binding protein; AREBP; FLJ20531; Zfp692
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
GRCh381248,850,008 - 248,859,085 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,850,006 - 248,859,144 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,144,207 - 249,153,284 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,110,828 - 247,119,894 (-)NCBINCBI36Build 36hg18NCBI36
Celera1222,305,489 - 222,314,485 (-)NCBICelera
Cytogenetic Map1q44NCBI
HuRef1219,385,182 - 219,394,323 (-)NCBIHuRef
CHM1_11250,416,496 - 250,425,608 (-)NCBICHM1_1
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
High myopia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16710414   PMID:17097062   PMID:21873635   PMID:21910974   PMID:26760575   PMID:28514442   PMID:28669730  
PMID:30385546   PMID:30466806   PMID:30816443   PMID:32296183   PMID:33961781   PMID:35271311   PMID:37980166   PMID:38291502   PMID:38382671   PMID:38650011  


Genomics

Comparative Map Data
ZNF692
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,850,008 - 248,859,085 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,850,006 - 248,859,144 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,144,207 - 249,153,284 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,110,828 - 247,119,894 (-)NCBINCBI36Build 36hg18NCBI36
Celera1222,305,489 - 222,314,485 (-)NCBICelera
Cytogenetic Map1q44NCBI
HuRef1219,385,182 - 219,394,323 (-)NCBIHuRef
CHM1_11250,416,496 - 250,425,608 (-)NCBICHM1_1
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBIT2T-CHM13v2.0
Zfp692
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,197,883 - 58,205,971 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1158,197,895 - 58,205,453 (+)EnsemblGRCm39 Ensembl
GRCm381158,307,057 - 58,315,145 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,307,069 - 58,314,627 (+)EnsemblGRCm38mm10GRCm38
MGSCv371158,120,571 - 58,128,115 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361158,123,298 - 58,130,805 (+)NCBIMGSCv36mm8
Celera1163,058,119 - 63,065,717 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1136.19NCBI
Zfp692
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81042,988,946 - 42,997,009 (+)NCBIGRCr8
mRatBN7.21042,484,576 - 42,496,573 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1042,488,588 - 42,496,018 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1047,152,963 - 47,161,027 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01046,643,408 - 46,651,472 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01042,146,919 - 42,154,983 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01043,740,739 - 43,752,713 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1043,744,731 - 43,752,242 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01043,533,194 - 43,544,935 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41043,947,318 - 43,952,710 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11043,946,763 - 43,965,997 (+)NCBI
Celera1041,781,679 - 41,787,071 (+)NCBICelera
Cytogenetic Map10q22NCBI
Znf692
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541829,910,252 - 29,915,013 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541829,910,084 - 29,915,013 (-)NCBIChiLan1.0ChiLan1.0
ZNF692
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21183,598 - 195,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11453,653 - 465,888 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01224,493,593 - 224,503,040 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ZNF692
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11613,746,183 - 13,754,549 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1613,746,201 - 13,776,042 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1611,454,472 - 11,462,840 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01613,723,725 - 13,731,947 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1613,723,727 - 13,732,405 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11610,864,132 - 10,872,499 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01613,257,970 - 13,266,168 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01613,434,365 - 13,442,738 (-)NCBIUU_Cfam_GSD_1.0
Znf692
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721391,880,308 - 91,889,546 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936609603,120 - 612,226 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936609602,987 - 612,182 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF692
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl252,284,193 - 52,296,973 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1252,288,641 - 52,297,155 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2255,188,293 - 55,196,958 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF692
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12585,691,400 - 85,700,571 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2585,691,603 - 85,699,760 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605588,319,851 - 88,329,018 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znf692
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624743741,616 - 746,790 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624743739,368 - 746,927 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF692
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:246386899-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|See cases [RCV000054068] Chr1:246386899..248918469 [GRCh38]
Chr1:246550201..249212668 [GRCh37]
Chr1:244616824..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:247092432-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|See cases [RCV000054069] Chr1:247092432..248918469 [GRCh38]
Chr1:247255734..249212668 [GRCh37]
Chr1:245322357..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 copy number gain See cases [RCV000053504] Chr1:242828731..248891309 [GRCh38]
Chr1:242992033..249185508 [GRCh37]
Chr1:241058656..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] Chr1:243055227..248918469 [GRCh38]
Chr1:243218529..249212668 [GRCh37]
Chr1:241285152..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:244498870-248918610)x1 copy number loss See cases [RCV000054064] Chr1:244498870..248918610 [GRCh38]
Chr1:244662172..249212809 [GRCh37]
Chr1:242728795..247179432 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 copy number loss See cases [RCV000054061] Chr1:243786629..248918469 [GRCh38]
Chr1:243949931..249212668 [GRCh37]
Chr1:242016554..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:245584222-248918610)x1 copy number loss See cases [RCV000054067] Chr1:245584222..248918610 [GRCh38]
Chr1:245747524..249212809 [GRCh37]
Chr1:243814147..247179432 [NCBI36]
Chr1:1q44
pathogenic
NM_001136036.2(ZNF692):c.1168+396C>T single nucleotide variant Lung cancer [RCV000090788] Chr1:248853541 [GRCh38]
Chr1:249147740 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q44(chr1:245312815-248918469)x3 copy number gain See cases [RCV000133864] Chr1:245312815..248918469 [GRCh38]
Chr1:245476117..249212668 [GRCh37]
Chr1:243542740..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:248826567-248918467)x1 copy number loss See cases [RCV000139528] Chr1:248826567..248918467 [GRCh38]
Chr1:249120766..249212666 [GRCh37]
Chr1:247087389..247179289 [NCBI36]
Chr1:1q44
likely benign
GRCh38/hg38 1q44(chr1:248804574-248895548)x3 copy number gain See cases [RCV000142420] Chr1:248804574..248895548 [GRCh38]
Chr1:249098884..249189747 [GRCh37]
Chr1:247065396..247156370 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:249143152-249151805)x3 copy number gain See cases [RCV000447501] Chr1:249143152..249151805 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44
pathogenic
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 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1q44(chr1:248572727-249224684)x3 copy number gain See cases [RCV000511097] Chr1:248572727..249224684 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.571G>C (p.Glu191Gln) single nucleotide variant not specified [RCV004301781] Chr1:248856376 [GRCh38]
Chr1:249150575 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
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 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q44(chr1:245341153-249212429) copy number loss not provided [RCV000767543] Chr1:245341153..249212429 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:246565044-249224684)x1 copy number loss not provided [RCV000848153] Chr1:246565044..249224684 [GRCh37]
Chr1:1q44
pathogenic
NM_017865.4(ZNF692):c.97G>C (p.Gly33Arg) single nucleotide variant High myopia [RCV000785741] Chr1:248858213 [GRCh38]
Chr1:249152412 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:244379481-249224684)x1 copy number loss not provided [RCV000845861] Chr1:244379481..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q44(chr1:246853199-249181899)x1 copy number loss not provided [RCV001259601] Chr1:246853199..249181899 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q44(chr1:246820858-249213969)x3 copy number gain not provided [RCV001795835] Chr1:246820858..249213969 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
NM_017865.4(ZNF692):c.1279C>T (p.Arg427Cys) single nucleotide variant not specified [RCV004090804] Chr1:248850491 [GRCh38]
Chr1:249144690 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_017865.4(ZNF692):c.695C>T (p.Pro232Leu) single nucleotide variant not specified [RCV004208404] Chr1:248855911 [GRCh38]
Chr1:249150110 [GRCh37]
Chr1:1q44
uncertain significance
Single allele deletion Developmental and epileptic encephalopathy, 54 [RCV002481171] Chr1:242045197..249212668 [GRCh37]
Chr1:1q43-44
likely pathogenic
NM_017865.4(ZNF692):c.724A>T (p.Thr242Ser) single nucleotide variant not specified [RCV004104109] Chr1:248855882 [GRCh38]
Chr1:249150081 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.989G>A (p.Cys330Tyr) single nucleotide variant not specified [RCV004154391] Chr1:248855429 [GRCh38]
Chr1:249149628 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.14C>T (p.Pro5Leu) single nucleotide variant not specified [RCV004219090] Chr1:248858296 [GRCh38]
Chr1:249152495 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.454A>C (p.Thr152Pro) single nucleotide variant not specified [RCV004082257] Chr1:248857255 [GRCh38]
Chr1:249151454 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.985C>G (p.Pro329Ala) single nucleotide variant not specified [RCV004083181] Chr1:248855433 [GRCh38]
Chr1:249149632 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1414C>T (p.Pro472Ser) single nucleotide variant not specified [RCV004229188] Chr1:248850356 [GRCh38]
Chr1:249144555 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.406C>T (p.Pro136Ser) single nucleotide variant not specified [RCV004124959] Chr1:248857303 [GRCh38]
Chr1:249151502 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.676C>T (p.Pro226Ser) single nucleotide variant not specified [RCV004175512] Chr1:248855930 [GRCh38]
Chr1:249150129 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.511G>A (p.Ala171Thr) single nucleotide variant not specified [RCV004076965] Chr1:248856527 [GRCh38]
Chr1:249150726 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1400G>A (p.Arg467His) single nucleotide variant not specified [RCV004084641] Chr1:248850370 [GRCh38]
Chr1:249144569 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1025G>A (p.Arg342Gln) single nucleotide variant not specified [RCV004261529] Chr1:248855393 [GRCh38]
Chr1:249149592 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:245704069-249212562)x1 copy number loss not provided [RCV003222664] Chr1:245704069..249212562 [GRCh37]
Chr1:1q44
pathogenic
NM_017865.4(ZNF692):c.1192T>A (p.Phe398Ile) single nucleotide variant not specified [RCV004309237] Chr1:248850743 [GRCh38]
Chr1:249144942 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.28T>A (p.Ser10Thr) single nucleotide variant not specified [RCV004280574] Chr1:248858282 [GRCh38]
Chr1:249152481 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327711] Chr1:243221458..248919110 [GRCh38]
Chr1:1q43-44
pathogenic
NM_017865.4(ZNF692):c.862C>G (p.Gln288Glu) single nucleotide variant not specified [RCV004334366] Chr1:248855744 [GRCh38]
Chr1:249149943 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1264T>C (p.Cys422Arg) single nucleotide variant not specified [RCV004355992] Chr1:248850506 [GRCh38]
Chr1:249144705 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q44(chr1:246983973-249224684)x1 copy number loss not provided [RCV003484177] Chr1:246983973..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q44(chr1:246765135-249224684)x1 copy number loss not provided [RCV004442832] Chr1:246765135..249224684 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.301C>T (p.Arg101Trp) single nucleotide variant not specified [RCV004490084] Chr1:248857408 [GRCh38]
Chr1:249151607 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.146T>C (p.Leu49Pro) single nucleotide variant not specified [RCV004601743] Chr1:248858164 [GRCh38]
Chr1:249152363 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q43-44(chr1:243204376-249224684)x1 copy number loss not provided [RCV004819330] Chr1:243204376..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
NM_017865.4(ZNF692):c.1183G>A (p.Ala395Thr) single nucleotide variant not specified [RCV004889228] Chr1:248850752 [GRCh38]
Chr1:249144951 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.739G>A (p.Ala247Thr) single nucleotide variant not specified [RCV004889229] Chr1:248855867 [GRCh38]
Chr1:249150066 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004889230] Chr1:248858294 [GRCh38]
Chr1:249152493 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.809C>T (p.Pro270Leu) single nucleotide variant not specified [RCV004889231] Chr1:248855797 [GRCh38]
Chr1:249149996 [GRCh37]
Chr1:1q44
likely benign
NM_017865.4(ZNF692):c.864G>T (p.Gln288His) single nucleotide variant not specified [RCV004889232] Chr1:248855742 [GRCh38]
Chr1:249149941 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1186C>T (p.Arg396Trp) single nucleotide variant not specified [RCV004889233] Chr1:248850749 [GRCh38]
Chr1:249144948 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:246426364-249224684)x1 copy number loss not provided [RCV004819724] Chr1:246426364..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q44(chr1:244582123-248918469)x1 copy number loss See cases [RCV000135611] Chr1:244582123..248918469 [GRCh38]
Chr1:244745425..249212668 [GRCh37]
Chr1:242812048..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 copy number gain See cases [RCV000137155] Chr1:242932576..248864636 [GRCh38]
Chr1:243095878..249158835 [GRCh37]
Chr1:241162501..247125458 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q44(chr1:246753355-249224684)x3 copy number gain See cases [RCV000512337] Chr1:246753355..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:244797639-249224684)x1 copy number loss not provided [RCV000684725] Chr1:244797639..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:247846257-249224684)x1 copy number loss not provided [RCV000684732] Chr1:247846257..249224684 [GRCh37]
Chr1:1q44
uncertain significance
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_017865.4(ZNF692):c.1359C>T (p.Cys453=) single nucleotide variant not provided [RCV000971172] Chr1:248850411 [GRCh38]
Chr1:249144610 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3 copy number gain not provided [RCV002472628] Chr1:243258050..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:246850401-249205263)x3 copy number gain See cases [RCV002292210] Chr1:246850401..249205263 [GRCh37]
Chr1:1q44
pathogenic
NM_017865.4(ZNF692):c.641A>G (p.Tyr214Cys) single nucleotide variant not specified [RCV004100910] Chr1:248856306 [GRCh38]
Chr1:249150505 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1264T>A (p.Cys422Ser) single nucleotide variant not specified [RCV004134080] Chr1:248850506 [GRCh38]
Chr1:249144705 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44
pathogenic
NM_017865.4(ZNF692):c.295G>A (p.Gly99Arg) single nucleotide variant not specified [RCV004490083] Chr1:248857414 [GRCh38]
Chr1:249151613 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.358T>C (p.Phe120Leu) single nucleotide variant not specified [RCV004490086] Chr1:248857351 [GRCh38]
Chr1:249151550 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.668C>G (p.Pro223Arg) single nucleotide variant not specified [RCV004490088] Chr1:248855938 [GRCh38]
Chr1:249150137 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.805C>T (p.Pro269Ser) single nucleotide variant not specified [RCV004490089] Chr1:248855801 [GRCh38]
Chr1:249150000 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.856G>C (p.Ala286Pro) single nucleotide variant not specified [RCV004490090] Chr1:248855750 [GRCh38]
Chr1:249149949 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.325G>A (p.Gly109Arg) single nucleotide variant not specified [RCV004490085] Chr1:248857384 [GRCh38]
Chr1:249151583 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.455C>T (p.Thr152Met) single nucleotide variant not specified [RCV004490087] Chr1:248857254 [GRCh38]
Chr1:249151453 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1310G>A (p.Arg437His) single nucleotide variant not specified [RCV004490080] Chr1:248850460 [GRCh38]
Chr1:249144659 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1399C>T (p.Arg467Cys) single nucleotide variant not specified [RCV004490081] Chr1:248850371 [GRCh38]
Chr1:249144570 [GRCh37]
Chr1:1q44
likely benign
NM_017865.4(ZNF692):c.284G>A (p.Ser95Asn) single nucleotide variant not specified [RCV004490082] Chr1:248857425 [GRCh38]
Chr1:249151624 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.970A>G (p.Lys324Glu) single nucleotide variant not specified [RCV004490091] Chr1:248855448 [GRCh38]
Chr1:249149647 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1513A>G (p.Arg505Gly) single nucleotide variant not specified [RCV004601744] Chr1:248850257 [GRCh38]
Chr1:249144456 [GRCh37]
Chr1:1q44
uncertain significance
NM_017865.4(ZNF692):c.1387G>T (p.Val463Phe) single nucleotide variant not specified [RCV004601745] Chr1:248850383 [GRCh38]
Chr1:249144582 [GRCh37]
Chr1:1q44
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:11993
Count of miRNA genes:1124
Interacting mature miRNAs:1468
Transcripts:ENST00000306601, ENST00000366469, ENST00000366471, ENST00000391820, ENST00000412341, ENST00000427146, ENST00000451251, ENST00000462037, ENST00000463519, ENST00000468455, ENST00000470787, ENST00000474351, ENST00000476503, ENST00000477070, ENST00000478107, ENST00000482023, ENST00000483223, ENST00000483791, ENST00000491971, ENST00000495731, ENST00000496053, ENST00000496231, ENST00000496411, ENST00000497847, ENST00000528141, ENST00000530699, ENST00000530986, ENST00000533614, ENST00000533647, ENST00000533927, ENST00000533976, ENST00000534456, ENST00000534660
Prediction methods:Microtar, Miranda, 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
D1S3739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,148,666 - 249,148,820UniSTSGRCh37
Build 361247,115,289 - 247,115,443RGDNCBI36
Celera1222,309,953 - 222,310,135RGD
Cytogenetic Map1q44UniSTS
HuRef1219,389,646 - 219,389,828UniSTS
Marshfield Genetic Map1289.66UniSTS
Marshfield Genetic Map1289.66RGD
GeneMap99-GB4 RH Map1774.27UniSTS
Whitehead-RH Map1949.0UniSTS
NCBI RH Map12001.5UniSTS
SHGC-76656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,144,218 - 249,144,349UniSTSGRCh37
Build 361247,110,841 - 247,110,972RGDNCBI36
Celera1222,305,504 - 222,305,635RGD
Cytogenetic Map1q44UniSTS
HuRef1219,385,197 - 219,385,328UniSTS
TNG Radiation Hybrid Map1126584.0UniSTS
GeneMap99-GB4 RH Map1777.83UniSTS
Whitehead-RH Map1952.7UniSTS
NCBI RH Map12001.5UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF256175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA147512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA319079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA693598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA765600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB520788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H07076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000306601   ⟹   ENSP00000305483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,008 - 248,859,085 (-)Ensembl
Ensembl Acc Id: ENST00000366471   ⟹   ENSP00000355427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,008 - 248,859,085 (-)Ensembl
Ensembl Acc Id: ENST00000412341   ⟹   ENSP00000393552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,045 - 248,859,068 (-)Ensembl
Ensembl Acc Id: ENST00000451251   ⟹   ENSP00000391200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,066 - 248,858,860 (-)Ensembl
Ensembl Acc Id: ENST00000462037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,377 - 248,854,523 (-)Ensembl
Ensembl Acc Id: ENST00000463519   ⟹   ENSP00000436308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,006 - 248,858,713 (-)Ensembl
Ensembl Acc Id: ENST00000468455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,855,782 - 248,857,772 (-)Ensembl
Ensembl Acc Id: ENST00000470787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,282 - 248,859,065 (-)Ensembl
Ensembl Acc Id: ENST00000474351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,384 - 248,856,086 (-)Ensembl
Ensembl Acc Id: ENST00000476503   ⟹   ENSP00000431582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,024 - 248,855,943 (-)Ensembl
Ensembl Acc Id: ENST00000477070   ⟹   ENSP00000436814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,042 - 248,857,497 (-)Ensembl
Ensembl Acc Id: ENST00000478107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,855,384 - 248,858,119 (-)Ensembl
Ensembl Acc Id: ENST00000482023   ⟹   ENSP00000433522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,045 - 248,855,458 (-)Ensembl
Ensembl Acc Id: ENST00000483223   ⟹   ENSP00000434484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,856,515 - 248,858,529 (-)Ensembl
Ensembl Acc Id: ENST00000483791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,569 - 248,859,116 (-)Ensembl
Ensembl Acc Id: ENST00000491971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,855,595 - 248,857,637 (-)Ensembl
Ensembl Acc Id: ENST00000495731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,365 - 248,859,083 (-)Ensembl
Ensembl Acc Id: ENST00000496053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,669 - 248,859,071 (-)Ensembl
Ensembl Acc Id: ENST00000496231   ⟹   ENSP00000432300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,313 - 248,859,067 (-)Ensembl
Ensembl Acc Id: ENST00000496411   ⟹   ENSP00000431343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,855,728 - 248,859,018 (-)Ensembl
Ensembl Acc Id: ENST00000497847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,440 - 248,859,066 (-)Ensembl
Ensembl Acc Id: ENST00000528141   ⟹   ENSP00000434221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,391 - 248,859,085 (-)Ensembl
Ensembl Acc Id: ENST00000530699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,610 - 248,858,695 (-)Ensembl
Ensembl Acc Id: ENST00000530986   ⟹   ENSP00000431338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,469 - 248,859,085 (-)Ensembl
Ensembl Acc Id: ENST00000533614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,652 - 248,859,085 (-)Ensembl
Ensembl Acc Id: ENST00000533647   ⟹   ENSP00000437104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,273 - 248,858,324 (-)Ensembl
Ensembl Acc Id: ENST00000533927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,850,009 - 248,857,884 (-)Ensembl
Ensembl Acc Id: ENST00000533976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,975 - 248,859,033 (-)Ensembl
Ensembl Acc Id: ENST00000534456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,865 - 248,859,144 (-)Ensembl
Ensembl Acc Id: ENST00000534660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,857,557 - 248,859,072 (-)Ensembl
RefSeq Acc Id: NM_001136036   ⟹   NP_001129508
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
GRCh371249,144,203 - 249,153,315 (-)RGD
Celera1222,305,489 - 222,314,485 (-)RGD
HuRef1219,385,182 - 219,394,323 (-)ENTREZGENE
CHM1_11250,416,496 - 250,425,418 (-)NCBI
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193328   ⟹   NP_001180257
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
GRCh371249,144,203 - 249,153,315 (-)RGD
Celera1222,305,489 - 222,314,485 (-)RGD
HuRef1219,385,182 - 219,394,323 (-)ENTREZGENE
CHM1_11250,416,496 - 250,425,608 (-)NCBI
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350072   ⟹   NP_001337001
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350073   ⟹   NP_001337002
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017865   ⟹   NP_060335
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
GRCh371249,144,203 - 249,153,315 (-)RGD
Build 361247,110,828 - 247,119,894 (-)NCBI Archive
Celera1222,305,489 - 222,314,485 (-)RGD
HuRef1219,385,182 - 219,394,323 (-)ENTREZGENE
CHM1_11250,416,496 - 250,425,608 (-)NCBI
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544220   ⟹   XP_011542522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544221   ⟹   XP_011542523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544222   ⟹   XP_011542524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544227   ⟹   XP_011542529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,858,321 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001698   ⟹   XP_016857187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001699   ⟹   XP_016857188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001700   ⟹   XP_016857189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001702   ⟹   XP_016857191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448274   ⟹   XP_024304042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,858,321 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424581   ⟹   XP_047280537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
RefSeq Acc Id: XM_047424583   ⟹   XP_047280539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,689 - 248,859,085 (-)NCBI
RefSeq Acc Id: XM_047424586   ⟹   XP_047280542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,858,966 (-)NCBI
RefSeq Acc Id: XM_047424596   ⟹   XP_047280552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,859,085 (-)NCBI
RefSeq Acc Id: XM_047424599   ⟹   XP_047280555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,858,321 (-)NCBI
RefSeq Acc Id: XM_047424603   ⟹   XP_047280559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,850,008 - 248,857,719 (-)NCBI
RefSeq Acc Id: XM_054337545   ⟹   XP_054193520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337546   ⟹   XP_054193521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337547   ⟹   XP_054193522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337548   ⟹   XP_054193523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337549   ⟹   XP_054193524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337550   ⟹   XP_054193525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337551   ⟹   XP_054193526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337552   ⟹   XP_054193527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,289,172 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337553   ⟹   XP_054193528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337554   ⟹   XP_054193529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,296,832 (-)NCBI
RefSeq Acc Id: XM_054337555   ⟹   XP_054193530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,297,596 (-)NCBI
RefSeq Acc Id: XM_054337556   ⟹   XP_054193531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,296,832 (-)NCBI
RefSeq Acc Id: XM_054337557   ⟹   XP_054193532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,296,832 (-)NCBI
RefSeq Acc Id: XM_054337558   ⟹   XP_054193533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,288,491 - 248,296,230 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001129508 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180257 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337001 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337002 (Get FASTA)   NCBI Sequence Viewer  
  NP_060335 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542522 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542523 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542524 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542529 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857187 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857188 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857189 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857191 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304042 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280537 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280539 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280542 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280552 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280555 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193520 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193521 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193522 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193532 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193533 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG15327 (Get FASTA)   NCBI Sequence Viewer  
  AAH02948 (Get FASTA)   NCBI Sequence Viewer  
  BAA91239 (Get FASTA)   NCBI Sequence Viewer  
  BAA91490 (Get FASTA)   NCBI Sequence Viewer  
  BAD92943 (Get FASTA)   NCBI Sequence Viewer  
  BAG61010 (Get FASTA)   NCBI Sequence Viewer  
  BAG63552 (Get FASTA)   NCBI Sequence Viewer  
  CAB61410 (Get FASTA)   NCBI Sequence Viewer  
  EAW57539 (Get FASTA)   NCBI Sequence Viewer  
  EAW57540 (Get FASTA)   NCBI Sequence Viewer  
  EAW57541 (Get FASTA)   NCBI Sequence Viewer  
  EAW57542 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000305483
  ENSP00000305483.5
  ENSP00000355427
  ENSP00000355427.3
  ENSP00000391200
  ENSP00000391200.1
  ENSP00000431582
  ENSP00000436308.1
GenBank Protein Q9BU19 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060335   ⟸   NM_017865
- Peptide Label: isoform 2
- UniProtKB: Q9NWY6 (UniProtKB/Swiss-Prot),   Q9NW93 (UniProtKB/Swiss-Prot),   Q9HBC9 (UniProtKB/Swiss-Prot),   Q5SRA6 (UniProtKB/Swiss-Prot),   Q5SRA5 (UniProtKB/Swiss-Prot),   B4DXZ0 (UniProtKB/Swiss-Prot),   Q9UF97 (UniProtKB/Swiss-Prot),   Q9BU19 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129508   ⟸   NM_001136036
- Peptide Label: isoform 1
- UniProtKB: Q9BU19 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180257   ⟸   NM_001193328
- Peptide Label: isoform 3
- UniProtKB: Q9BU19 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542523   ⟸   XM_011544221
- Peptide Label: isoform X2
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542522   ⟸   XM_011544220
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542524   ⟸   XM_011544222
- Peptide Label: isoform X3
- UniProtKB: Q9NWY6 (UniProtKB/Swiss-Prot),   Q9NW93 (UniProtKB/Swiss-Prot),   Q9HBC9 (UniProtKB/Swiss-Prot),   Q5SRA6 (UniProtKB/Swiss-Prot),   Q5SRA5 (UniProtKB/Swiss-Prot),   B4DXZ0 (UniProtKB/Swiss-Prot),   Q9UF97 (UniProtKB/Swiss-Prot),   Q9BU19 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542529   ⟸   XM_011544227
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016857188   ⟸   XM_017001699
- Peptide Label: isoform X5
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857191   ⟸   XM_017001702
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016857187   ⟸   XM_017001698
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016857189   ⟸   XM_017001700
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001337001   ⟸   NM_001350072
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001337002   ⟸   NM_001350073
- Peptide Label: isoform 5
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304042   ⟸   XM_024448274
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000305483   ⟸   ENST00000306601
Ensembl Acc Id: ENSP00000436308   ⟸   ENST00000463519
Ensembl Acc Id: ENSP00000436814   ⟸   ENST00000477070
Ensembl Acc Id: ENSP00000391200   ⟸   ENST00000451251
Ensembl Acc Id: ENSP00000431338   ⟸   ENST00000530986
Ensembl Acc Id: ENSP00000393552   ⟸   ENST00000412341
Ensembl Acc Id: ENSP00000437104   ⟸   ENST00000533647
Ensembl Acc Id: ENSP00000432300   ⟸   ENST00000496231
Ensembl Acc Id: ENSP00000433522   ⟸   ENST00000482023
Ensembl Acc Id: ENSP00000431343   ⟸   ENST00000496411
Ensembl Acc Id: ENSP00000434484   ⟸   ENST00000483223
Ensembl Acc Id: ENSP00000355427   ⟸   ENST00000366471
Ensembl Acc Id: ENSP00000434221   ⟸   ENST00000528141
Ensembl Acc Id: ENSP00000431582   ⟸   ENST00000476503
RefSeq Acc Id: XP_047280537   ⟸   XM_047424581
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047280552   ⟸   XM_047424596
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047280542   ⟸   XM_047424586
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047280555   ⟸   XM_047424599
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280559   ⟸   XM_047424603
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280539   ⟸   XM_047424583
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054193526   ⟸   XM_054337551
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054193523   ⟸   XM_054337548
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054193525   ⟸   XM_054337550
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054193522   ⟸   XM_054337547
- Peptide Label: isoform X3
- UniProtKB: Q9NWY6 (UniProtKB/Swiss-Prot),   Q9NW93 (UniProtKB/Swiss-Prot),   Q9HBC9 (UniProtKB/Swiss-Prot),   Q9BU19 (UniProtKB/Swiss-Prot),   Q5SRA6 (UniProtKB/Swiss-Prot),   Q5SRA5 (UniProtKB/Swiss-Prot),   B4DXZ0 (UniProtKB/Swiss-Prot),   Q9UF97 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193521   ⟸   XM_054337546
- Peptide Label: isoform X2
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193524   ⟸   XM_054337549
- Peptide Label: isoform X5
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193520   ⟸   XM_054337545
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193530   ⟸   XM_054337555
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054193528   ⟸   XM_054337553
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054193532   ⟸   XM_054337557
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193531   ⟸   XM_054337556
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193529   ⟸   XM_054337554
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054193533   ⟸   XM_054337558
- Peptide Label: isoform X1
- UniProtKB: H0YCH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193527   ⟸   XM_054337552
- Peptide Label: isoform X8
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BU19-F1-model_v2 AlphaFold Q9BU19 1-519 view protein structure

Promoters
RGD ID:6787287
Promoter ID:HG_KWN:8280
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000097316
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,114,701 - 247,115,922 (-)MPROMDB
RGD ID:6785042
Promoter ID:HG_KWN:8281
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000097313,   OTTHUMT00000097315,   OTTHUMT00000097317,   UC001IEZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,116,386 - 247,117,847 (-)MPROMDB
RGD ID:6785049
Promoter ID:HG_KWN:8282
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:ENST00000315492,   ENST00000366469,   ENST00000366470,   ENST00000391820,   NM_001136036,   NM_017865,   OTTHUMT00000097301,   OTTHUMT00000097302,   OTTHUMT00000097303,   OTTHUMT00000097304,   OTTHUMT00000097305,   OTTHUMT00000097306,   OTTHUMT00000097307,   OTTHUMT00000097308,   OTTHUMT00000097309,   OTTHUMT00000097310,   OTTHUMT00000097311,   OTTHUMT00000097312,   OTTHUMT00000097321,   UC001IFA.1,   UC001IFD.1,   UC001IFE.1,   UC001IFF.1,   UC009XHC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,118,421 - 247,120,177 (-)MPROMDB
RGD ID:6859514
Promoter ID:EPDNEW_H2922
Type:initiation region
Name:ZNF692_1
Description:zinc finger protein 692
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
GRCh381248,859,085 - 248,859,145EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26049 AgrOrtholog
COSMIC ZNF692 COSMIC
Ensembl Genes ENSG00000171163 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000306601 ENTREZGENE
  ENST00000306601.9 UniProtKB/Swiss-Prot
  ENST00000366471 ENTREZGENE
  ENST00000366471.7 UniProtKB/Swiss-Prot
  ENST00000451251 ENTREZGENE
  ENST00000451251.5 UniProtKB/Swiss-Prot
  ENST00000463519.5 UniProtKB/Swiss-Prot
  ENST00000476503 ENTREZGENE
  ENST00000533927 ENTREZGENE
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000171163 GTEx
HGNC ID HGNC:26049 ENTREZGENE
Human Proteome Map ZNF692 Human Proteome Map
InterPro ZnF_C2H2-type_TF UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:55657 UniProtKB/Swiss-Prot
NCBI Gene 55657 ENTREZGENE
OMIM 617758 OMIM
PANTHER TRANSCRIPTIONAL REPRESSOR CTCFL-RELATED UniProtKB/Swiss-Prot
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA142670491 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt B4DXZ0 ENTREZGENE
  E7ET73_HUMAN UniProtKB/TrEMBL
  E9PLQ5_HUMAN UniProtKB/TrEMBL
  E9PLQ7_HUMAN UniProtKB/TrEMBL
  E9PRH5_HUMAN UniProtKB/TrEMBL
  H0YCH4 ENTREZGENE, UniProtKB/TrEMBL
  H0YDF5_HUMAN UniProtKB/TrEMBL
  H0YEY1_HUMAN UniProtKB/TrEMBL
  Q5SRA5 ENTREZGENE
  Q5SRA6 ENTREZGENE
  Q9BU19 ENTREZGENE
  Q9HBC9 ENTREZGENE
  Q9NW93 ENTREZGENE
  Q9NWY6 ENTREZGENE
  Q9UF97 ENTREZGENE
  ZN692_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DXZ0 UniProtKB/Swiss-Prot
  Q5SRA5 UniProtKB/Swiss-Prot
  Q5SRA6 UniProtKB/Swiss-Prot
  Q9HBC9 UniProtKB/Swiss-Prot
  Q9NW93 UniProtKB/Swiss-Prot
  Q9NWY6 UniProtKB/Swiss-Prot
  Q9UF97 UniProtKB/Swiss-Prot