ZFAT (zinc finger and AT-hook domain containing) - Rat Genome Database

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Gene: ZFAT (zinc finger and AT-hook domain containing) Homo sapiens
Analyze
Symbol: ZFAT
Name: zinc finger and AT-hook domain containing
RGD ID: 1322045
HGNC Page HGNC
Description: Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in hemopoiesis and regulation of transcription, DNA-templated. Predicted to localize to chromatin. Implicated in autoimmune thyroiditis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AITD3; KIAA1485; MGC126815; MGC126817; ZFAT zinc finger 1; ZFAT1; zinc finger and AT hook domain containing; zinc finger gene in autoimmune thyroid disease; zinc finger protein 406; zinc finger protein ZFAT; zinc-finger gene in AITD susceptibility region; ZNF406
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8134,477,788 - 134,713,049 (-)EnsemblGRCh38hg38GRCh38
GRCh388134,477,788 - 134,713,031 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378135,490,031 - 135,725,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368135,559,213 - 135,794,463 (-)NCBINCBI36hg18NCBI36
Build 348135,559,212 - 135,794,463NCBI
Celera8131,694,988 - 131,897,996 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8130,805,939 - 131,040,970 (-)NCBIHuRef
CHM1_18135,532,148 - 135,767,381 (-)NCBICHM1_1
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

Cellular Component
cytosol  (IEA)
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Thyroiditis  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:10819331   PMID:11440990   PMID:12477932   PMID:14702039   PMID:15294872   PMID:15489334   PMID:18329245   PMID:19162026   PMID:19847924   PMID:20379614   PMID:20453441  
PMID:20549515   PMID:20645017   PMID:20881960   PMID:21626137   PMID:21873635   PMID:21988832   PMID:21998595   PMID:22589738   PMID:22706687   PMID:22894909   PMID:23414517   PMID:24665060  
PMID:25201988   PMID:25277244   PMID:25429064   PMID:25801860   PMID:26472760   PMID:27572828   PMID:28627089   PMID:29507755   PMID:31270553   PMID:31366551   PMID:31586073   PMID:32694731  
PMID:32997115  


Genomics

Comparative Map Data
ZFAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8134,477,788 - 134,713,049 (-)EnsemblGRCh38hg38GRCh38
GRCh388134,477,788 - 134,713,031 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378135,490,031 - 135,725,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368135,559,213 - 135,794,463 (-)NCBINCBI36hg18NCBI36
Build 348135,559,212 - 135,794,463NCBI
Celera8131,694,988 - 131,897,996 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8130,805,939 - 131,040,970 (-)NCBIHuRef
CHM1_18135,532,148 - 135,767,381 (-)NCBICHM1_1
Zfat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391567,955,563 - 68,130,771 (-)NCBIGRCm39mm39
GRCm39 Ensembl1567,955,613 - 68,130,705 (-)Ensembl
GRCm381568,083,714 - 68,258,922 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1568,083,764 - 68,258,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv371567,915,300 - 68,090,418 (-)NCBIGRCm37mm9NCBIm37
MGSCv361567,913,435 - 68,088,516 (-)NCBImm8
Celera1569,599,468 - 69,776,200 (-)NCBICelera
Cytogenetic Map15D2NCBI
Zfat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2799,886,954 - 100,054,288 (-)NCBI
Rnor_6.0 Ensembl7109,037,845 - 109,205,354 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07109,037,777 - 109,207,511 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07108,980,615 - 109,149,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47105,570,121 - 105,736,965 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17105,604,960 - 105,771,196 (-)NCBI
Celera796,398,419 - 96,565,690 (-)NCBICelera
Cytogenetic Map7q34NCBI
Zfat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554618,862,686 - 9,137,182 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554618,863,200 - 9,152,307 (-)NCBIChiLan1.0ChiLan1.0
ZFAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18134,102,879 - 134,337,255 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8134,102,879 - 134,337,255 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08131,148,934 - 131,383,113 (-)NCBIMhudiblu_PPA_v0panPan3
ZFAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11330,649,971 - 30,842,941 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1330,650,654 - 30,841,543 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1330,628,405 - 30,818,191 (-)NCBI
ROS_Cfam_1.01331,015,917 - 31,208,692 (-)NCBI
UMICH_Zoey_3.11330,738,470 - 30,928,309 (-)NCBI
UNSW_CanFamBas_1.01330,838,493 - 31,027,240 (-)NCBI
UU_Cfam_GSD_1.01331,187,246 - 31,377,513 (-)NCBI
Zfat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053037,551,227 - 7,724,930 (+)NCBI
SpeTri2.0NW_00493647014,974,493 - 15,151,029 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl47,016,753 - 7,374,053 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.146,969,692 - 7,174,989 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.246,821,635 - 6,852,447 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZFAT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18128,882,903 - 129,115,594 (-)NCBI
ChlSab1.1 Ensembl8128,882,905 - 129,115,454 (-)Ensembl

Position Markers
D8S1710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,636,309 - 135,636,480UniSTSGRCh37
Build 368135,705,491 - 135,705,662RGDNCBI36
Celera8131,809,464 - 131,809,633RGD
Cytogenetic Map8q24.22UniSTS
HuRef8130,951,980 - 130,952,147UniSTS
Marshfield Genetic Map8150.8UniSTS
Marshfield Genetic Map8150.8RGD
Genethon Genetic Map8149.8UniSTS
TNG Radiation Hybrid Map865760.0UniSTS
deCODE Assembly Map8146.68UniSTS
Stanford-G3 RH Map84221.0UniSTS
GeneMap99-GB4 RH Map8517.89UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81534.9UniSTS
GeneMap99-G3 RH Map84311.0UniSTS
WI-16742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,543,663 - 135,543,798UniSTSGRCh37
Build 368135,612,845 - 135,612,980RGDNCBI36
Celera8131,716,804 - 131,716,939RGD
Cytogenetic Map8q24.22UniSTS
HuRef8130,859,453 - 130,859,588UniSTS
GeneMap99-GB4 RH Map8517.79UniSTS
Whitehead-RH Map8681.0UniSTS
NCBI RH Map81557.4UniSTS
WI-11309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,490,040 - 135,490,188UniSTSGRCh37
Build 368135,559,222 - 135,559,370RGDNCBI36
Cytogenetic Map8q24.22UniSTS
HuRef8130,805,948 - 130,806,096UniSTS
GeneMap99-GB4 RH Map8517.99UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81524.3UniSTS
D8S1624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,695,206 - 135,695,405UniSTSGRCh37
Build 368135,764,388 - 135,764,587RGDNCBI36
Celera8131,868,373 - 131,868,572RGD
Cytogenetic Map8q24.22UniSTS
HuRef8131,010,891 - 131,011,090UniSTS
Whitehead-YAC Contig Map8 UniSTS
SHGC-79115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,545,871 - 135,546,182UniSTSGRCh37
Build 368135,615,053 - 135,615,364RGDNCBI36
Celera8131,719,012 - 131,719,323RGD
Cytogenetic Map8q24.22UniSTS
HuRef8130,861,661 - 130,861,972UniSTS
TNG Radiation Hybrid Map865722.0UniSTS
G64002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,670,086 - 135,670,216UniSTSGRCh37
Build 368135,739,268 - 135,739,398RGDNCBI36
Celera8131,843,244 - 131,843,374RGD
Cytogenetic Map8q24.22UniSTS
HuRef8130,985,754 - 130,985,884UniSTS
SHGC-106070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,710,843 - 135,711,158UniSTSGRCh37
Build 368135,780,025 - 135,780,340RGDNCBI36
Celera8131,883,547 - 131,883,862RGD
Cytogenetic Map8q24.22UniSTS
HuRef8131,026,519 - 131,026,834UniSTS
TNG Radiation Hybrid Map865781.0UniSTS
RH41946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,490,122 - 135,490,258UniSTSGRCh37
Build 368135,559,304 - 135,559,440RGDNCBI36
Cytogenetic Map8q24.22UniSTS
HuRef8130,806,030 - 130,806,166UniSTS
GeneMap99-GB4 RH Map8517.99UniSTS
NCBI RH Map81560.7UniSTS
G20385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,490,157 - 135,490,294UniSTSGRCh37
Build 368135,559,339 - 135,559,476RGDNCBI36
Cytogenetic Map8q24.22UniSTS
HuRef8130,806,065 - 130,806,202UniSTS
A005O43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378135,490,157 - 135,490,294UniSTSGRCh37
Build 368135,559,339 - 135,559,476RGDNCBI36
Cytogenetic Map8q24.22UniSTS
HuRef8130,806,065 - 130,806,202UniSTS
GeneMap99-GB4 RH Map8517.89UniSTS
NCBI RH Map81524.3UniSTS
SHGC-79106  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.22UniSTS
HuRef8130,861,653 - 130,861,972UniSTS
TNG Radiation Hybrid Map865726.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7422
Count of miRNA genes:1275
Interacting mature miRNAs:1670
Transcripts:ENST00000377838, ENST00000429442, ENST00000517307, ENST00000518191, ENST00000518408, ENST00000519827, ENST00000520214, ENST00000520356, ENST00000520727, ENST00000521673, ENST00000522257, ENST00000522723, ENST00000522974, ENST00000523040, ENST00000523243, ENST00000523399, ENST00000523924
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 238 29 14 8 486 4 102 150 17 19 297 38 4 14 77 3
Low 2194 2877 1673 579 1444 425 4253 1981 3587 396 1152 1569 167 1190 2711 2
Below cutoff 78 36 35 17 35 62 105 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001029939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB167738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB167739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB167740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB167741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI964061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM685256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377838   ⟹   ENSP00000367069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,477,788 - 134,713,031 (-)Ensembl
RefSeq Acc Id: ENST00000429442   ⟹   ENSP00000394501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,477,792 - 134,696,558 (-)Ensembl
RefSeq Acc Id: ENST00000517307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,512,574 - 134,594,885 (-)Ensembl
RefSeq Acc Id: ENST00000518191   ⟹   ENSP00000428192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,608,841 - 134,696,556 (-)Ensembl
RefSeq Acc Id: ENST00000518408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,478,025 - 134,565,671 (-)Ensembl
RefSeq Acc Id: ENST00000519827   ⟹   ENSP00000430924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,583,951 - 134,600,668 (-)Ensembl
RefSeq Acc Id: ENST00000520214   ⟹   ENSP00000428483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,478,025 - 134,696,554 (-)Ensembl
RefSeq Acc Id: ENST00000520356   ⟹   ENSP00000427879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,477,788 - 134,696,554 (-)Ensembl
RefSeq Acc Id: ENST00000520727   ⟹   ENSP00000427831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,477,792 - 134,696,554 (-)Ensembl
RefSeq Acc Id: ENST00000521673   ⟹   ENSP00000429600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,478,222 - 134,510,182 (-)Ensembl
RefSeq Acc Id: ENST00000522257   ⟹   ENSP00000429983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,608,740 - 134,639,880 (-)Ensembl
RefSeq Acc Id: ENST00000522723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,509,701 - 134,511,082 (-)Ensembl
RefSeq Acc Id: ENST00000522974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,597,544 - 134,696,554 (-)Ensembl
RefSeq Acc Id: ENST00000523040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,602,807 - 134,637,593 (-)Ensembl
RefSeq Acc Id: ENST00000523243   ⟹   ENSP00000429930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,477,792 - 134,713,049 (-)Ensembl
RefSeq Acc Id: ENST00000523399   ⟹   ENSP00000429091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,478,393 - 134,712,962 (-)Ensembl
RefSeq Acc Id: ENST00000523924   ⟹   ENSP00000429050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8134,477,792 - 134,713,038 (-)Ensembl
RefSeq Acc Id: NM_001029939   ⟹   NP_001025110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,696,555 (-)NCBI
GRCh378135,490,031 - 135,725,292 (-)ENTREZGENE
Build 368135,678,969 - 135,777,976 (-)NCBI Archive
HuRef8130,805,939 - 131,040,970 (-)ENTREZGENE
CHM1_18135,532,148 - 135,750,888 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001167583   ⟹   NP_001161055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,696,555 (-)NCBI
GRCh378135,490,031 - 135,725,292 (-)ENTREZGENE
HuRef8130,805,939 - 131,040,970 (-)ENTREZGENE
CHM1_18135,532,148 - 135,750,888 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001174157   ⟹   NP_001167628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,713,031 (-)NCBI
GRCh378135,490,031 - 135,725,292 (-)ENTREZGENE
HuRef8130,805,939 - 131,040,970 (-)ENTREZGENE
CHM1_18135,532,148 - 135,767,381 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001174158   ⟹   NP_001167629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,696,555 (-)NCBI
GRCh378135,490,031 - 135,725,292 (-)ENTREZGENE
HuRef8130,805,939 - 131,040,970 (-)ENTREZGENE
CHM1_18135,532,148 - 135,750,888 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289394   ⟹   NP_001276323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,713,031 (-)NCBI
HuRef8130,805,939 - 131,040,970 (-)NCBI
CHM1_18135,532,148 - 135,767,381 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020863   ⟹   NP_065914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,713,031 (-)NCBI
GRCh378135,490,031 - 135,725,292 (-)ENTREZGENE
Build 368135,559,213 - 135,794,463 (-)NCBI Archive
HuRef8130,805,939 - 131,040,970 (-)ENTREZGENE
CHM1_18135,532,148 - 135,767,381 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110323
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,713,031 (-)NCBI
HuRef8130,805,939 - 131,040,970 (-)NCBI
CHM1_18135,532,148 - 135,767,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517203   ⟹   XP_011515505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,686,894 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517204   ⟹   XP_011515506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,639,876 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517206   ⟹   XP_011515508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,478,597 - 134,696,555 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013716   ⟹   XP_016869205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,487,257 - 134,657,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745568
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,561,531 - 134,657,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745569
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,657,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745570
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,583,951 - 134,657,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928343
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,477,788 - 134,657,737 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001025110 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161055 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167628 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167629 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276323 (Get FASTA)   NCBI Sequence Viewer  
  NP_065914 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515505 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515506 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515508 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869205 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12989 (Get FASTA)   NCBI Sequence Viewer  
  AAH25423 (Get FASTA)   NCBI Sequence Viewer  
  AAH46180 (Get FASTA)   NCBI Sequence Viewer  
  AAH98405 (Get FASTA)   NCBI Sequence Viewer  
  AAI01767 (Get FASTA)   NCBI Sequence Viewer  
  AAI01769 (Get FASTA)   NCBI Sequence Viewer  
  AAI43520 (Get FASTA)   NCBI Sequence Viewer  
  BAA96009 (Get FASTA)   NCBI Sequence Viewer  
  BAD12567 (Get FASTA)   NCBI Sequence Viewer  
  BAD12568 (Get FASTA)   NCBI Sequence Viewer  
  BAD12569 (Get FASTA)   NCBI Sequence Viewer  
  BAD12570 (Get FASTA)   NCBI Sequence Viewer  
  BAH13220 (Get FASTA)   NCBI Sequence Viewer  
  BAH13257 (Get FASTA)   NCBI Sequence Viewer  
  BAH13290 (Get FASTA)   NCBI Sequence Viewer  
  BAH13477 (Get FASTA)   NCBI Sequence Viewer  
  EAW92179 (Get FASTA)   NCBI Sequence Viewer  
  Q9P243 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001167628   ⟸   NM_001174157
- Peptide Label: isoform 3
- UniProtKB: Q9P243 (UniProtKB/Swiss-Prot),   B7Z6H1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065914   ⟸   NM_020863
- Peptide Label: isoform 1
- UniProtKB: Q9P243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167629   ⟸   NM_001174158
- Peptide Label: isoform 4
- UniProtKB: E9PBN4 (UniProtKB/TrEMBL),   Q4KMQ4 (UniProtKB/TrEMBL),   Q6PJQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161055   ⟸   NM_001167583
- Peptide Label: isoform 2
- UniProtKB: B7Z6H1 (UniProtKB/TrEMBL),   Q4KMQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001025110   ⟸   NM_001029939
- Peptide Label: isoform 2
- UniProtKB: Q9P243 (UniProtKB/Swiss-Prot),   Q4KMQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276323   ⟸   NM_001289394
- Peptide Label: isoform 2
- UniProtKB: Q9P243 (UniProtKB/Swiss-Prot),   B7Z6H1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515505   ⟸   XM_011517203
- Peptide Label: isoform X2
- UniProtKB: Q9P243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515506   ⟸   XM_011517204
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515508   ⟸   XM_011517206
- Peptide Label: isoform X4
- UniProtKB: F8W7M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869205   ⟸   XM_017013716
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000428192   ⟸   ENST00000518191
RefSeq Acc Id: ENSP00000430924   ⟸   ENST00000519827
RefSeq Acc Id: ENSP00000394501   ⟸   ENST00000429442
RefSeq Acc Id: ENSP00000427879   ⟸   ENST00000520356
RefSeq Acc Id: ENSP00000367069   ⟸   ENST00000377838
RefSeq Acc Id: ENSP00000428483   ⟸   ENST00000520214
RefSeq Acc Id: ENSP00000427831   ⟸   ENST00000520727
RefSeq Acc Id: ENSP00000429600   ⟸   ENST00000521673
RefSeq Acc Id: ENSP00000429983   ⟸   ENST00000522257
RefSeq Acc Id: ENSP00000429091   ⟸   ENST00000523399
RefSeq Acc Id: ENSP00000429930   ⟸   ENST00000523243
RefSeq Acc Id: ENSP00000429050   ⟸   ENST00000523924
Protein Domains
C2H2-type

Promoters
RGD ID:7214227
Promoter ID:EPDNEW_H12859
Type:initiation region
Name:ZFAT_4
Description:zinc finger and AT-hook domain containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12860  EPDNEW_H12862  EPDNEW_H12861  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,565,613 - 134,565,673EPDNEW
RGD ID:7214229
Promoter ID:EPDNEW_H12860
Type:multiple initiation site
Name:ZFAT_3
Description:zinc finger and AT-hook domain containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12859  EPDNEW_H12862  EPDNEW_H12861  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,696,552 - 134,696,612EPDNEW
RGD ID:7214233
Promoter ID:EPDNEW_H12861
Type:initiation region
Name:ZFAT_1
Description:zinc finger and AT-hook domain containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12859  EPDNEW_H12860  EPDNEW_H12862  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,713,031 - 134,713,091EPDNEW
RGD ID:7214231
Promoter ID:EPDNEW_H12862
Type:multiple initiation site
Name:ZFAT_2
Description:zinc finger and AT-hook domain containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12859  EPDNEW_H12860  EPDNEW_H12861  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388134,713,144 - 134,713,204EPDNEW
RGD ID:6807169
Promoter ID:HG_KWN:62161
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:NM_001174157,   UC003YUP.1,   UC003YUQ.1,   UC010MEI.1,   UC010MEJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368135,794,016 - 135,795,077 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ZFAT1, IVS9, A-T single nucleotide variant Autoimmune thyroid disease 3 [RCV000001139] Chr8:8q23-q24 risk factor
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_020863.3(ZFAT):c.27G>T (p.Thr9=) single nucleotide variant Malignant melanoma [RCV000068162] Chr8:134657730 [GRCh38]
Chr8:135669973 [GRCh37]
Chr8:135739155 [NCBI36]
Chr8:8q24.22
not provided
NM_020863.3(ZFAT):c.2887+4191G>T single nucleotide variant Lung cancer [RCV000107073] Chr8:134579641 [GRCh38]
Chr8:135591884 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:134189112-135015642)x3 copy number gain See cases [RCV000138082] Chr8:134189112..135015642 [GRCh38]
Chr8:135201355..136027885 [GRCh37]
Chr8:135270537..136097067 [NCBI36]
Chr8:8q24.22
likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys) single nucleotide variant not specified [RCV000455390] Chr8:134602310 [GRCh38]
Chr8:135614553 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NM_020863.4(ZFAT):c.3147A>G (p.Val1049=) single nucleotide variant not provided [RCV000961896] Chr8:134520970 [GRCh38]
Chr8:135533213 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.1741G>A (p.Val581Met) single nucleotide variant not provided [RCV000899687] Chr8:134601978 [GRCh38]
Chr8:135614221 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.99G>A (p.Glu33=) single nucleotide variant not provided [RCV000950172] Chr8:134657658 [GRCh38]
Chr8:135669901 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.1054A>G (p.Ile352Val) single nucleotide variant not provided [RCV000968133] Chr8:134602665 [GRCh38]
Chr8:135614908 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.1636C>T (p.Arg546Trp) single nucleotide variant not provided [RCV000962922] Chr8:134602083 [GRCh38]
Chr8:135614326 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.3474G>A (p.Thr1158=) single nucleotide variant not provided [RCV000959042] Chr8:134509637 [GRCh38]
Chr8:135521880 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.1534C>T (p.Leu512=) single nucleotide variant not provided [RCV000968629] Chr8:134602185 [GRCh38]
Chr8:135614428 [GRCh37]
Chr8:8q24.22
benign
NM_020863.4(ZFAT):c.2015G>A (p.Arg672Lys) single nucleotide variant not provided [RCV000974096] Chr8:134601704 [GRCh38]
Chr8:135613947 [GRCh37]
Chr8:8q24.22
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_020863.4(ZFAT):c.3555G>A (p.Ala1185=) single nucleotide variant not provided [RCV000885661] Chr8:134478659 [GRCh38]
Chr8:135490902 [GRCh37]
Chr8:8q24.22
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19899 AgrOrtholog
COSMIC ZFAT COSMIC
Ensembl Genes ENSG00000066827 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367069 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394501 UniProtKB/TrEMBL
  ENSP00000427831 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427879 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428192 UniProtKB/TrEMBL
  ENSP00000428483 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429050 UniProtKB/TrEMBL
  ENSP00000429091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429600 UniProtKB/TrEMBL
  ENSP00000429930 UniProtKB/TrEMBL
  ENSP00000429983 UniProtKB/TrEMBL
  ENSP00000430924 UniProtKB/TrEMBL
Ensembl Transcript ENST00000377838 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000429442 UniProtKB/TrEMBL
  ENST00000518191 UniProtKB/TrEMBL
  ENST00000519827 UniProtKB/TrEMBL
  ENST00000520214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520356 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000520727 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521673 UniProtKB/TrEMBL
  ENST00000522257 UniProtKB/TrEMBL
  ENST00000523243 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000523399 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523924 UniProtKB/TrEMBL
GTEx ENSG00000066827 GTEx
HGNC ID HGNC:19899 ENTREZGENE
Human Proteome Map ZFAT Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57623 UniProtKB/Swiss-Prot
NCBI Gene 57623 ENTREZGENE
OMIM 608175 OMIM
  610931 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162409638 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z6H1 ENTREZGENE, UniProtKB/TrEMBL
  E5RGN2_HUMAN UniProtKB/TrEMBL
  E5RH37_HUMAN UniProtKB/TrEMBL
  E5RJL9_HUMAN UniProtKB/TrEMBL
  E5RJT2_HUMAN UniProtKB/TrEMBL
  E9PBN4 ENTREZGENE, UniProtKB/TrEMBL
  F8W7M8 ENTREZGENE, UniProtKB/TrEMBL
  H0YBJ1_HUMAN UniProtKB/TrEMBL
  H0YC51_HUMAN UniProtKB/TrEMBL
  Q4KMQ4 ENTREZGENE, UniProtKB/TrEMBL
  Q6PJQ2 ENTREZGENE, UniProtKB/TrEMBL
  Q9P243 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7ZL15 UniProtKB/Swiss-Prot
  E9PER3 UniProtKB/Swiss-Prot
  Q3MIM5 UniProtKB/Swiss-Prot
  Q6PJ01 UniProtKB/Swiss-Prot
  Q75PJ6 UniProtKB/Swiss-Prot
  Q75PJ7 UniProtKB/Swiss-Prot
  Q75PJ9 UniProtKB/Swiss-Prot
  Q86X64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 ZFAT  zinc finger and AT-hook domain containing    zinc finger and AT hook domain containing  Symbol and/or name change 5135510 APPROVED