ZBTB7A (zinc finger and BTB domain containing 7A) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ZBTB7A (zinc finger and BTB domain containing 7A) Homo sapiens
Analyze
Symbol: ZBTB7A
Name: zinc finger and BTB domain containing 7A
RGD ID: 1350408
HGNC Page HGNC
Description: Enables several functions, including SMAD binding activity; androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. Colocalizes with DNA-dependent protein kinase complex and NuRD complex; INTERACTS WITH 5-fluorouracil; aflatoxin B1; aflatoxin B2.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp547O146; factor binding IST protein 1; factor that binds to inducer of short transcripts protein 1; FBI-1; FBI1; HIV-1 1st-binding protein 1; HIV-1 inducer of short transcripts binding protein; leukemia/lymphoma-related factor; LRF; lymphoma related factor; MGC99631; POK erythroid myeloid ontogenic factor; pokemon; pokemon 1; POZ and Krueppel erythroid myeloid ontogenic factor; TIP21; TTF-I-interacting peptide 21; ZBTB7; zinc finger and btb domain containing 7; zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein; zinc finger and BTB domain-containing protein 7A; zinc finger protein 857A; ZNF857A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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 Ensembl194,043,303 - 4,066,899 (-)EnsemblGRCh38hg38GRCh38
GRCh38194,043,303 - 4,066,899 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37194,043,301 - 4,066,897 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,996,216 - 4,017,816 (-)NCBINCBI36hg18NCBI36
Build 34193,996,216 - 4,017,816NCBI
Celera193,984,710 - 4,006,260 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef193,809,524 - 3,824,110 (-)NCBIHuRef
CHM1_1194,044,801 - 4,066,422 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:9927193   PMID:9973611   PMID:11907272   PMID:12004059   PMID:12477932   PMID:12750370   PMID:14701838   PMID:15302935   PMID:15337766   PMID:15489334   PMID:15662416  
PMID:15917220   PMID:16341674   PMID:17081983   PMID:17189472   PMID:17595526   PMID:18355317   PMID:18368381   PMID:18482847   PMID:18550205   PMID:18682402   PMID:18801742   PMID:19244234  
PMID:19274049   PMID:19444642   PMID:19471103   PMID:19505873   PMID:20336405   PMID:20394500   PMID:20812024   PMID:20923760   PMID:21176152   PMID:21251909   PMID:21392388   PMID:21590684  
PMID:21640721   PMID:21713761   PMID:21771706   PMID:21804610   PMID:21873635   PMID:21985851   PMID:21988832   PMID:22242598   PMID:22447046   PMID:22754333   PMID:22847180   PMID:22939629  
PMID:23054188   PMID:23300578   PMID:23396304   PMID:23658227   PMID:23667531   PMID:23727861   PMID:23807508   PMID:23874836   PMID:23911422   PMID:23924858   PMID:24175766   PMID:24261083  
PMID:24326827   PMID:24377524   PMID:24382891   PMID:24393848   PMID:24514149   PMID:24857950   PMID:25184678   PMID:25367850   PMID:25416956   PMID:25439053   PMID:25514493   PMID:25722217  
PMID:25995384   PMID:26164003   PMID:26227218   PMID:26446488   PMID:26455326   PMID:26713860   PMID:26760575   PMID:26797719   PMID:26816381   PMID:26949251   PMID:26968532   PMID:27252013  
PMID:27282567   PMID:27492460   PMID:27798625   PMID:28088736   PMID:28242196   PMID:28473536   PMID:28611215   PMID:28701473   PMID:28849590   PMID:28942243   PMID:29117863   PMID:29509190  
PMID:29610478   PMID:29673422   PMID:29699474   PMID:29715100   PMID:29764865   PMID:29813070   PMID:29844126   PMID:29975452   PMID:30106136   PMID:30251205   PMID:30265334   PMID:30285874  
PMID:30385546   PMID:30427207   PMID:30804502   PMID:31209240   PMID:31209250   PMID:31309112   PMID:31385585   PMID:31444154   PMID:31527615   PMID:31753913   PMID:31998789   PMID:32115572  
PMID:32410140   PMID:32755656   PMID:32867453   PMID:32965543   PMID:33051436   PMID:33167891   PMID:33812414  


Genomics

Comparative Map Data
ZBTB7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl194,043,303 - 4,066,899 (-)EnsemblGRCh38hg38GRCh38
GRCh38194,043,303 - 4,066,899 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37194,043,301 - 4,066,897 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,996,216 - 4,017,816 (-)NCBINCBI36hg18NCBI36
Build 34193,996,216 - 4,017,816NCBI
Celera193,984,710 - 4,006,260 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef193,809,524 - 3,824,110 (-)NCBIHuRef
CHM1_1194,044,801 - 4,066,422 (-)NCBICHM1_1
Zbtb7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,970,416 - 80,988,056 (+)NCBIGRCm39mm39
GRCm39 Ensembl1080,971,054 - 80,988,829 (+)Ensembl
GRCm381081,135,225 - 81,152,222 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,135,220 - 81,152,995 (+)EnsemblGRCm38mm10GRCm38
MGSCv371080,599,016 - 80,614,402 (+)NCBIGRCm37mm9NCBIm37
MGSCv361080,539,400 - 80,554,393 (+)NCBImm8
Celera1082,156,627 - 82,172,013 (+)NCBICelera
Cytogenetic Map10C1NCBI
Zbtb7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.278,561,015 - 8,578,243 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl78,563,779 - 8,576,539 (-)Ensembl
Rnor_6.0711,429,266 - 11,446,119 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl711,432,049 - 11,444,786 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,596,630 - 11,613,467 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,047,586 - 10,060,456 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1710,047,608 - 10,052,982 (-)NCBI
Celera76,751,640 - 6,757,036 (-)NCBICelera
Cytogenetic Map7q11NCBI
Zbtb7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,740,901 - 4,753,992 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,747,905 - 4,754,066 (+)NCBIChiLan1.0ChiLan1.0
ZBTB7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1194,013,208 - 4,037,630 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0193,066,554 - 3,090,285 (-)NCBIMhudiblu_PPA_v0panPan3
ZBTB7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12055,517,531 - 55,527,071 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2055,505,916 - 55,523,736 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2055,233,807 - 55,252,980 (+)NCBI
ROS_Cfam_1.02056,169,484 - 56,187,224 (+)NCBI
UMICH_Zoey_3.12055,224,406 - 55,243,571 (+)NCBI
UNSW_CanFamBas_1.02055,705,817 - 55,724,966 (+)NCBI
UU_Cfam_GSD_1.02055,904,666 - 55,923,869 (+)NCBI
Zbtb7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118215,512,758 - 215,525,208 (+)NCBI
SpeTri2.0NW_0049365882,310,975 - 2,321,790 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZBTB7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl274,681,192 - 74,695,975 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1274,678,293 - 74,699,347 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2275,223,154 - 75,243,600 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZBTB7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.163,802,171 - 3,824,552 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl63,801,046 - 3,812,884 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660814,418,198 - 4,441,462 (+)NCBIVero_WHO_p1.0
Zbtb7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248285,529,351 - 5,548,481 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH47736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,045,375 - 4,045,509UniSTSGRCh37
Build 36193,996,375 - 3,996,509RGDNCBI36
Celera193,984,869 - 3,985,003RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,809,683 - 3,809,817UniSTS
GeneMap99-GB4 RH Map1932.22UniSTS
RH79859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,044,743 - 4,044,955UniSTSGRCh37
Build 36193,995,743 - 3,995,955RGDNCBI36
Celera193,984,237 - 3,984,449RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,809,051 - 3,809,263UniSTS
STS-R06252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,046,726 - 4,046,892UniSTSGRCh37
Build 36193,997,726 - 3,997,892RGDNCBI36
Celera193,986,218 - 3,986,384RGD
Cytogenetic Map19p13.3UniSTS
GeneMap99-GB4 RH Map1932.27UniSTS
A006W32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,046,509 - 4,046,764UniSTSGRCh37
Build 36193,997,509 - 3,997,764RGDNCBI36
Celera193,986,001 - 3,986,256RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,810,836 - 3,811,091UniSTS
GeneMap99-GB4 RH Map1931.19UniSTS
MARC_21177-21178:1027091454:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,054,206 - 4,054,648UniSTSGRCh37
Build 36194,005,206 - 4,005,648RGDNCBI36
Celera193,993,693 - 3,994,135RGD
HuRef193,818,220 - 3,818,662UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1988
Count of miRNA genes:883
Interacting mature miRNAs:1034
Transcripts:ENST00000322357, ENST00000601588
Prediction methods: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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2411 2177 1474 398 1637 241 4292 1825 3292 307 1168 1588 169 1202 2745 3
Low 27 813 252 226 313 224 64 371 439 112 289 25 5 1 2 43 3 2
Below cutoff 1 1 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM696365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ082585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ711712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB047382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB242327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB495635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322357   ⟹   ENSP00000323670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,043,303 - 4,066,899 (-)Ensembl
RefSeq Acc Id: ENST00000601588   ⟹   ENSP00000471865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl194,047,742 - 4,065,732 (-)Ensembl
RefSeq Acc Id: NM_001317990   ⟹   NP_001304919
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,043,303 - 4,065,529 (-)NCBI
CHM1_1194,042,616 - 4,065,133 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015898   ⟹   NP_056982
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,043,303 - 4,066,899 (-)NCBI
GRCh37194,045,216 - 4,066,816 (-)ENTREZGENE
Build 36193,996,216 - 4,017,816 (-)NCBI Archive
HuRef193,809,524 - 3,824,110 (-)ENTREZGENE
CHM1_1194,042,616 - 4,066,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259570   ⟹   XP_005259627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,045,218 - 4,055,514 (-)NCBI
GRCh37194,045,216 - 4,066,816 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259571   ⟹   XP_005259628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,045,218 - 4,065,281 (-)NCBI
GRCh37194,045,216 - 4,066,816 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056982   ⟸   NM_015898
- UniProtKB: O95365 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259628   ⟸   XM_005259571
- Peptide Label: isoform X2
- UniProtKB: O95365 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259627   ⟸   XM_005259570
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001304919   ⟸   NM_001317990
- UniProtKB: O95365 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000323670   ⟸   ENST00000322357
RefSeq Acc Id: ENSP00000471865   ⟸   ENST00000601588
Protein Domains
BTB

Promoters
RGD ID:6796248
Promoter ID:HG_KWN:28556
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002LZH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,016,176 - 4,017,322 (-)MPROMDB
RGD ID:6796250
Promoter ID:HG_KWN:28557
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015898
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,017,776 - 4,018,677 (-)MPROMDB
RGD ID:7238057
Promoter ID:EPDNEW_H24775
Type:initiation region
Name:ZBTB7A_3
Description:zinc finger and BTB domain containing 7A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24776  EPDNEW_H24777  EPDNEW_H24778  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,065,493 - 4,065,553EPDNEW
RGD ID:7238061
Promoter ID:EPDNEW_H24776
Type:initiation region
Name:ZBTB7A_2
Description:zinc finger and BTB domain containing 7A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24775  EPDNEW_H24777  EPDNEW_H24778  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,066,853 - 4,066,913EPDNEW
RGD ID:7238063
Promoter ID:EPDNEW_H24777
Type:initiation region
Name:ZBTB7A_1
Description:zinc finger and BTB domain containing 7A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24775  EPDNEW_H24776  EPDNEW_H24778  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,067,059 - 4,067,119EPDNEW
RGD ID:7238065
Promoter ID:EPDNEW_H24778
Type:initiation region
Name:ZBTB7A_4
Description:zinc finger and BTB domain containing 7A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24775  EPDNEW_H24776  EPDNEW_H24777  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,067,565 - 4,067,625EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3 copy number gain See cases [RCV000052880] Chr19:4008560..4763159 [GRCh38]
Chr19:4008558..4763171 [GRCh37]
Chr19:3959558..4714171 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 copy number loss See cases [RCV000053942] Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 copy number loss See cases [RCV000053943] Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3
pathogenic
NM_015898.2(ZBTB7A):c.1666T>C (p.Leu556=) single nucleotide variant Malignant melanoma [RCV000072082] Chr19:4047841 [GRCh38]
Chr19:4047839 [GRCh37]
Chr19:3998839 [NCBI36]
Chr19:19p13.3
not provided
NM_015898.2(ZBTB7A):c.1737C>T (p.Phe579=) single nucleotide variant Malignant melanoma [RCV000063508] Chr19:4047770 [GRCh38]
Chr19:4047768 [GRCh37]
Chr19:3998768 [NCBI36]
Chr19:19p13.3
not provided
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 copy number gain See cases [RCV000134164] Chr19:3947934..5196676 [GRCh38]
Chr19:3947932..5196687 [GRCh37]
Chr19:3898932..5147687 [NCBI36]
Chr19:19p13.3
pathogenic|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 copy number loss See cases [RCV000143614] Chr19:3788727..5147354 [GRCh38]
Chr19:3788725..5147365 [GRCh37]
Chr19:3739725..5098365 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:4012916-4047248)x3 copy number gain See cases [RCV000448644] Chr19:4012916..4047248 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
Single allele duplication Primary amenorrhea [RCV000754469] Chr19:3718839..4604407 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:4065951-4067378)x1 copy number loss not provided [RCV000752529] Chr19:4065951..4067378 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:4065951-4067378)x4 copy number gain not provided [RCV000752530] Chr19:4065951..4067378 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:4065951-4067608)x0 copy number loss not provided [RCV000752531] Chr19:4065951..4067608 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_015898.4(ZBTB7A):c.338T>A (p.Leu113Gln) single nucleotide variant not provided [RCV001092103] Chr19:4054895 [GRCh38]
Chr19:4054893 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:3976203-4345430) copy number loss Obesity [RCV001352661] Chr19:3976203..4345430 [GRCh37]
Chr19:19p13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18078 AgrOrtholog
COSMIC ZBTB7A COSMIC
Ensembl Genes ENSG00000178951 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000323670 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000471865 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000601588 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.710.10 UniProtKB/Swiss-Prot
GTEx ENSG00000178951 GTEx
HGNC ID HGNC:18078 ENTREZGENE
Human Proteome Map ZBTB7A Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:51341 UniProtKB/Swiss-Prot
NCBI Gene 51341 ENTREZGENE
OMIM 605878 OMIM
Pfam BTB UniProtKB/Swiss-Prot
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA134885165 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
  SSF57667 UniProtKB/Swiss-Prot
UniProt L8E8Q6_HUMAN UniProtKB/TrEMBL
  O95365 ENTREZGENE
  Q8TB76_HUMAN UniProtKB/TrEMBL
  ZBT7A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D6W619 UniProtKB/Swiss-Prot
  O00456 UniProtKB/Swiss-Prot
  Q14D41 UniProtKB/Swiss-Prot
  Q5XG86 UniProtKB/Swiss-Prot