ZNF251 (zinc finger protein 251) - Rat Genome Database

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Gene: ZNF251 (zinc finger protein 251) Homo sapiens
Analyze
Symbol: ZNF251
Name: zinc finger protein 251
RGD ID: 1322438
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 hematopoietic stem cell homeostasis and regulation of transcription by RNA polymerase II. Predicted to localize to nucleus; INTERACTS WITH antirheumatic drug; doxorubicin; folic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ34319
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100419752  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,720,907 - 144,756,417 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,720,909 - 144,755,603 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,946,294 - 145,980,916 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,917,103 - 145,951,775 (-)NCBINCBI36hg18NCBI36
Celera8142,123,518 - 142,158,192 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,061,657 - 141,096,293 (-)NCBIHuRef
CHM1_18145,984,591 - 146,019,189 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA)

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16344560   PMID:16484223   PMID:18029348   PMID:20379614   PMID:21866423   PMID:21873635   PMID:22990118  
PMID:25447205   PMID:27337956   PMID:32296183  


Genomics

Comparative Map Data
ZNF251
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,720,907 - 144,756,417 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,720,909 - 144,755,603 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,946,294 - 145,980,916 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,917,103 - 145,951,775 (-)NCBINCBI36hg18NCBI36
Celera8142,123,518 - 142,158,192 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,061,657 - 141,096,293 (-)NCBIHuRef
CHM1_18145,984,591 - 146,019,189 (-)NCBICHM1_1
Zfp251
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,736,331 - 76,755,635 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,735,809 - 76,755,635 (-)Ensembl
GRCm381576,852,131 - 76,871,435 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,851,609 - 76,871,435 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,682,561 - 76,701,865 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,679,386 - 76,698,690 (-)NCBImm8
Celera1578,347,095 - 78,366,354 (-)NCBICelera
Cytogenetic Map15D3NCBI
Zfp251
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,568,564 - 108,597,866 (-)NCBI
Rnor_6.0 Ensembl7117,909,961 - 117,940,007 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,909,976 - 117,939,274 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,898,208 - 117,924,579 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,897,922 - 114,925,890 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,932,151 - 114,960,686 (-)NCBI
Celera7104,919,781 - 104,946,875 (-)NCBICelera
Cytogenetic Map7q34NCBI
Znf251
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554543,285,093 - 3,316,793 (-)NCBIChiLan1.0ChiLan1.0
ZNF251
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,472,476 - 144,507,437 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,472,476 - 144,507,415 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,491,963 - 141,527,617 (-)NCBIMhudiblu_PPA_v0panPan3
Znf251
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303165,797 - 194,187 (+)NCBI
SpeTri2.0NW_0049364707,591,956 - 7,620,288 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF251
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4186,689 - 193,132 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14186,689 - 193,100 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24153,550 - 159,146 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF251
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,917,029 - 138,953,823 (-)NCBI
ChlSab1.1 Ensembl8138,913,808 - 138,953,862 (-)Ensembl
Vero_WHO_p1.0NW_023666039888,511 - 926,334 (+)NCBI
Znf251
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,151,600 - 12,185,517 (+)NCBI

Position Markers
SHGC-172447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,981,861 - 145,982,199UniSTSGRCh37
Build 368145,952,666 - 145,953,004RGDNCBI36
Celera8142,159,083 - 142,159,421RGD
Cytogenetic Map8q24.3UniSTS
HuRef8141,097,184 - 141,097,522UniSTS
SHGC-172477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,971,231 - 145,971,503UniSTSGRCh37
Build 368145,942,038 - 145,942,310RGDNCBI36
Celera8142,148,454 - 142,148,726RGD
Cytogenetic Map8q24.3UniSTS
HuRef8141,086,556 - 141,086,828UniSTS
UniSTS:484467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,947,220 - 145,947,820UniSTSGRCh37
Celera8142,124,444 - 142,125,044UniSTS
HuRef8141,062,583 - 141,063,183UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:936
Count of miRNA genes:573
Interacting mature miRNAs:621
Transcripts:ENST00000292562, ENST00000524394, ENST00000525191, ENST00000530353
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 2143 1658 1236 217 739 84 3476 1172 2629 196 1357 1422 143 1157 2037 2 1
Low 296 1267 490 407 1146 381 881 1025 1105 223 103 191 32 1 47 751 4 1
Below cutoff 66 66

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_138367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF186192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU674002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX509447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA775010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA811573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292562   ⟹   ENSP00000292562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,720,909 - 144,755,531 (-)Ensembl
RefSeq Acc Id: ENST00000524394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,720,907 - 144,755,486 (-)Ensembl
RefSeq Acc Id: ENST00000525191   ⟹   ENSP00000431809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,753,454 - 144,755,441 (-)Ensembl
RefSeq Acc Id: ENST00000530353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,753,681 - 144,756,417 (-)Ensembl
RefSeq Acc Id: NM_138367   ⟹   NP_612376
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,720,909 - 144,755,531 (-)NCBI
GRCh378145,946,294 - 145,981,285 (-)NCBI
Build 368145,917,103 - 145,951,775 (-)NCBI Archive
Celera8142,123,518 - 142,158,192 (-)RGD
HuRef8141,061,657 - 141,096,293 (-)ENTREZGENE
CHM1_18145,984,591 - 146,019,189 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272356   ⟹   XP_005272413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,738,004 - 144,755,603 (-)NCBI
GRCh378145,946,294 - 145,981,285 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716683   ⟹   XP_006716746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,738,709 - 144,755,367 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517361   ⟹   XP_011515663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,751,384 - 144,755,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447324   ⟹   XP_024303092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,720,909 - 144,755,359 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_612376   ⟸   NM_138367
- UniProtKB: Q9BRH9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272413   ⟸   XM_005272356
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006716746   ⟸   XM_006716683
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515663   ⟸   XM_011517361
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303092   ⟸   XM_024447324
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000292562   ⟸   ENST00000292562
RefSeq Acc Id: ENSP00000431809   ⟸   ENST00000525191
Protein Domains
KRAB

Promoters
RGD ID:6807181
Promoter ID:HG_KWN:62367
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_138367
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,951,589 - 145,952,089 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
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 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 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
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 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 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
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:145778769-146025924)x3 copy number gain not provided [RCV000682955] Chr8:145778769..146025924 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
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(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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 8q24.3(chr8:145955543-146147494)x3 copy number gain not provided [RCV000748044] Chr8:145955543..146147494 [GRCh37]
Chr8:8q24.3
benign
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 8q24.3(chr8:145897164-146109987)x3 copy number gain not provided [RCV000846187] Chr8:145897164..146109987 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145939952-146050283)x3 copy number gain not provided [RCV000848017] Chr8:145939952..146050283 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
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
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 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 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13045 AgrOrtholog
COSMIC ZNF251 COSMIC
Ensembl Genes ENSG00000198169 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278062 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292562 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431809 UniProtKB/TrEMBL
  ENSP00000477765 UniProtKB/Swiss-Prot
  ENSP00000488718 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292562 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525191 UniProtKB/TrEMBL
  ENST00000612318 UniProtKB/Swiss-Prot
  ENST00000633636 UniProtKB/TrEMBL
GTEx ENSG00000198169 GTEx
  ENSG00000278062 GTEx
HGNC ID HGNC:13045 ENTREZGENE
Human Proteome Map ZNF251 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:90987 UniProtKB/Swiss-Prot
NCBI Gene 90987 ENTREZGENE
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA37623 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt H0YCK5_HUMAN UniProtKB/TrEMBL
  L0R6U9_HUMAN UniProtKB/TrEMBL
  Q9BRH9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q2M219 UniProtKB/Swiss-Prot