ZHX1 (zinc fingers and homeoboxes 1) - Rat Genome Database

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Gene: ZHX1 (zinc fingers and homeoboxes 1) Homo sapiens
Analyze
Symbol: ZHX1
Name: zinc fingers and homeoboxes 1
RGD ID: 1346071
HGNC Page HGNC
Description: Exhibits DNA-binding transcription factor activity and protein heterodimerization activity. Involved in negative regulation of transcription by RNA polymerase II. Localizes to nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: zinc finger and homeodomain protein 1; zinc fingers and homeobox 1; zinc fingers and homeoboxes protein 1; zinc-fingers and homeoboxes 1
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 Ensembl8123,248,451 - 123,275,541 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,248,456 - 123,275,541 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,260,696 - 124,287,781 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,329,877 - 124,355,728 (-)NCBINCBI36hg18NCBI36
Build 348124,329,883 - 124,355,728NCBI
Celera8120,449,735 - 120,475,585 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,587,157 - 119,614,189 (-)NCBIHuRef
CHM1_18124,300,977 - 124,328,068 (-)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
chromatin  (ISA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,ISO)

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10441475   PMID:10571058   PMID:12062805   PMID:12237128   PMID:12477932   PMID:12586822   PMID:12659632   PMID:12741956   PMID:14667819   PMID:14702039   PMID:15146197   PMID:15302935  
PMID:15383276   PMID:15489334   PMID:16169070   PMID:16344560   PMID:16524884   PMID:16713569   PMID:17056598   PMID:17127430   PMID:17303076   PMID:19274049   PMID:19322201   PMID:19348505  
PMID:20509910   PMID:20936779   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22939629   PMID:23314748   PMID:23686912   PMID:24064680   PMID:24941917   PMID:25448600   PMID:26186194  
PMID:26496610   PMID:27835650   PMID:28152006   PMID:28351300   PMID:28514442   PMID:28680062   PMID:29656893   PMID:30804394   PMID:31527615   PMID:32814053  


Genomics

Comparative Map Data
ZHX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,248,451 - 123,275,541 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,248,456 - 123,275,541 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,260,696 - 124,287,781 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,329,877 - 124,355,728 (-)NCBINCBI36hg18NCBI36
Build 348124,329,883 - 124,355,728NCBI
Celera8120,449,735 - 120,475,585 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,587,157 - 119,614,189 (-)NCBIHuRef
CHM1_18124,300,977 - 124,328,068 (-)NCBICHM1_1
Zhx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391557,910,399 - 57,939,904 (-)NCBIGRCm39mm39
GRCm39 Ensembl1557,910,399 - 57,939,937 (-)Ensembl
GRCm381558,047,003 - 58,076,508 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,047,003 - 58,076,541 (-)EnsemblGRCm38mm10GRCm38
MGSCv371557,878,558 - 57,908,044 (-)NCBIGRCm37mm9NCBIm37
MGSCv361557,877,091 - 57,899,438 (-)NCBImm8
Celera1559,567,020 - 59,596,509 (-)NCBICelera
Cytogenetic Map15D1NCBI
Zhx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,582,363 - 89,611,337 (-)NCBI
Rnor_6.0 Ensembl797,915,581 - 97,944,491 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0797,915,280 - 97,944,787 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,521,607 - 98,550,754 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4794,753,899 - 94,775,384 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1794,788,129 - 94,809,611 (-)NCBI
Celera786,354,706 - 86,382,874 (-)NCBICelera
Cytogenetic Map7q33NCBI
Zhx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,123,437 - 2,149,212 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,123,437 - 2,149,212 (-)NCBIChiLan1.0ChiLan1.0
ZHX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18122,701,948 - 122,728,485 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08119,945,909 - 119,972,926 (-)NCBIMhudiblu_PPA_v0panPan3
ZHX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,627,904 - 21,634,864 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,592,880 - 21,617,370 (-)NCBI
ROS_Cfam_1.01321,967,523 - 21,992,044 (-)NCBI
UMICH_Zoey_3.11321,695,838 - 21,720,330 (-)NCBI
UNSW_CanFamBas_1.01321,798,744 - 21,822,982 (-)NCBI
UU_Cfam_GSD_1.01322,042,007 - 22,066,533 (-)NCBI
Zhx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,632,821 - 16,658,425 (+)NCBI
SpeTri2.0NW_00493647024,058,718 - 24,084,535 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZHX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl416,106,930 - 16,126,674 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1416,100,773 - 16,134,222 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,844,917 - 16,878,310 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZHX1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18117,827,435 - 117,854,436 (-)NCBI
Vero_WHO_p1.0NW_02366603922,377,008 - 22,404,260 (+)NCBI
Zhx1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,655,039 - 31,682,733 (+)NCBI

Position Markers
RH78355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,261,070 - 124,261,259UniSTSGRCh37
Build 368124,330,251 - 124,330,440RGDNCBI36
Celera8120,450,109 - 120,450,298RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,587,537 - 119,587,726UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
SHGC-53839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,264,860 - 124,265,077UniSTSGRCh37
Build 368124,334,041 - 124,334,258RGDNCBI36
Celera8120,453,899 - 120,454,116RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,591,327 - 119,591,544UniSTS
RH98926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,264,875 - 124,265,054UniSTSGRCh37
Build 368124,334,056 - 124,334,235RGDNCBI36
Celera8120,453,914 - 120,454,093RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,591,342 - 119,591,521UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
SHGC-82245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,271,318 - 124,271,630UniSTSGRCh37
Build 368124,340,499 - 124,340,811RGDNCBI36
Celera8120,460,357 - 120,460,669RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,597,783 - 119,598,095UniSTS
TNG Radiation Hybrid Map860002.0UniSTS
D8S1558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,261,869 - 124,262,017UniSTSGRCh37
GRCh378124,261,869 - 124,263,262UniSTSGRCh37
Build 368124,331,050 - 124,331,198RGDNCBI36
Celera8120,450,908 - 120,452,301UniSTS
Celera8120,450,908 - 120,451,056RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,588,336 - 119,588,484UniSTS
HuRef8119,588,336 - 119,589,729UniSTS
STS-T66784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,262,134 - 124,262,383UniSTSGRCh37
GRCh378124,262,253 - 124,262,419UniSTSGRCh37
Build 368124,331,434 - 124,331,600RGDNCBI36
Celera8120,451,292 - 120,451,458RGD
Celera8120,451,173 - 120,451,422UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8119,588,601 - 119,588,850UniSTS
HuRef8119,588,720 - 119,588,886UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
NCBI RH Map81473.8UniSTS
STS-D60292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,261,064 - 124,261,298UniSTSGRCh37
Build 368124,330,245 - 124,330,479RGDNCBI36
Celera8120,450,103 - 120,450,337RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,587,531 - 119,587,765UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
G30158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,261,886 - 124,262,010UniSTSGRCh37
GRCh378124,261,886 - 124,263,255UniSTSGRCh37
Build 368124,331,067 - 124,331,191RGDNCBI36
Celera8120,450,925 - 120,452,294UniSTS
Celera8120,450,925 - 120,451,049RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,588,353 - 119,588,477UniSTS
HuRef8119,588,353 - 119,589,722UniSTS
WI-11363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,268,013 - 124,268,151UniSTSGRCh37
Build 368124,337,194 - 124,337,332RGDNCBI36
Celera8120,457,052 - 120,457,190RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,594,478 - 119,594,616UniSTS
GeneMap99-GB4 RH Map8474.48UniSTS
Whitehead-RH Map8641.5UniSTS
NCBI RH Map81461.6UniSTS
STS-T66784  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.13UniSTS
GeneMap99-GB4 RH Map8474.7UniSTS
NCBI RH Map81473.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1648
Count of miRNA genes:717
Interacting mature miRNAs:824
Transcripts:ENST00000297857, ENST00000395571, ENST00000480132, ENST00000517516, ENST00000522595, ENST00000522655, ENST00000524267, ENST00000602651
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1547 1335 1307 362 835 257 3187 810 2721 266 1050 1453 117 1147 1898 2
Low 892 1479 419 262 940 208 1170 1385 1013 152 410 160 58 1 57 890 4 2
Below cutoff 177 176 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001017926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF106862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF195766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ008088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA776642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN352595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA238313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297857   ⟹   ENSP00000297857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,248,451 - 123,274,487 (-)Ensembl
RefSeq Acc Id: ENST00000395571   ⟹   ENSP00000378938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,248,456 - 123,274,286 (-)Ensembl
RefSeq Acc Id: ENST00000480132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,256,120 - 123,274,266 (-)Ensembl
RefSeq Acc Id: ENST00000517516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,249,660 - 123,267,391 (-)Ensembl
RefSeq Acc Id: ENST00000522595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,255,535 - 123,274,484 (-)Ensembl
RefSeq Acc Id: ENST00000522655   ⟹   ENSP00000428821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,250,130 - 123,275,541 (-)Ensembl
RefSeq Acc Id: ENST00000524267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,255,920 - 123,273,997 (-)Ensembl
RefSeq Acc Id: ENST00000602651   ⟹   ENSP00000475324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,252,429 - 123,253,442 (-)Ensembl
RefSeq Acc Id: NM_001017926   ⟹   NP_001017926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,248,456 - 123,274,286 (-)NCBI
GRCh378124,260,690 - 124,287,781 (-)ENTREZGENE
Build 368124,329,877 - 124,355,728 (-)NCBI Archive
HuRef8119,587,157 - 119,614,189 (-)ENTREZGENE
CHM1_18124,300,977 - 124,327,014 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007222   ⟹   NP_009153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,248,456 - 123,274,286 (-)NCBI
GRCh378124,260,690 - 124,287,781 (-)ENTREZGENE
Build 368124,329,877 - 124,355,728 (-)NCBI Archive
HuRef8119,587,157 - 119,614,189 (-)ENTREZGENE
CHM1_18124,300,977 - 124,327,014 (-)NCBI
Sequence:
RefSeq Acc Id: NR_037873
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,248,456 - 123,275,541 (-)NCBI
GRCh378124,260,690 - 124,287,781 (-)ENTREZGENE
HuRef8119,587,157 - 119,614,189 (-)ENTREZGENE
CHM1_18124,300,977 - 124,328,068 (-)NCBI
Sequence:
RefSeq Acc Id: NR_037874
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,248,456 - 123,274,286 (-)NCBI
GRCh378124,260,690 - 124,287,781 (-)ENTREZGENE
HuRef8119,587,157 - 119,614,189 (-)ENTREZGENE
CHM1_18124,300,977 - 124,327,014 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009153   ⟸   NM_007222
- UniProtKB: Q9UKY1 (UniProtKB/Swiss-Prot),   A0A024R9F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001017926   ⟸   NM_001017926
- UniProtKB: Q9UKY1 (UniProtKB/Swiss-Prot),   A0A024R9F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000297857   ⟸   ENST00000297857
RefSeq Acc Id: ENSP00000428821   ⟸   ENST00000522655
RefSeq Acc Id: ENSP00000475324   ⟸   ENST00000602651
RefSeq Acc Id: ENSP00000378938   ⟸   ENST00000395571
Protein Domains
C2H2-type   Homeobox

Promoters
RGD ID:7214111
Promoter ID:EPDNEW_H12802
Type:initiation region
Name:ZHX1_4
Description:zinc fingers and homeoboxes 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12803  EPDNEW_H12804  EPDNEW_H12805  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,250,012 - 123,250,072EPDNEW
RGD ID:7214113
Promoter ID:EPDNEW_H12803
Type:initiation region
Name:ZHX1_3
Description:zinc fingers and homeoboxes 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12802  EPDNEW_H12804  EPDNEW_H12805  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,253,854 - 123,253,914EPDNEW
RGD ID:7214115
Promoter ID:EPDNEW_H12804
Type:initiation region
Name:ZHX1_1
Description:zinc fingers and homeoboxes 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12802  EPDNEW_H12803  EPDNEW_H12805  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,274,277 - 123,274,337EPDNEW
RGD ID:7214117
Promoter ID:EPDNEW_H12805
Type:initiation region
Name:ZHX1_2
Description:zinc fingers and homeoboxes 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12802  EPDNEW_H12803  EPDNEW_H12804  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,274,569 - 123,274,629EPDNEW
RGD ID:6813565
Promoter ID:HG_ACW:78679
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ZHX1ANDC8ORF76.LAPR07-UNSPLICED,   ZHX1ANDC8ORF76.OAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,332,271 - 124,332,771 (-)MPROMDB
RGD ID:6807177
Promoter ID:HG_KWN:62023
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC010MDJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,335,056 - 124,335,556 (-)MPROMDB
RGD ID:6807176
Promoter ID:HG_KWN:62028
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001017926,   NM_007222,   UC003YQG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,355,571 - 124,356,607 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3 copy number gain See cases [RCV000050761] Chr8:122751607..123361569 [GRCh38]
Chr8:123763846..124373809 [GRCh37]
Chr8:123833027..124442990 [NCBI36]
Chr8:8q24.13
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 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 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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
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 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 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 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 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
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 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
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
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 8q24.13(chr8:124238872-124416004)x1 copy number loss not provided [RCV000747810] Chr8:124238872..124416004 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124243771-124440262)x3 copy number gain not provided [RCV000747811] Chr8:124243771..124440262 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124259431-124390209)x3 copy number gain not provided [RCV000747812] Chr8:124259431..124390209 [GRCh37]
Chr8:8q24.13
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 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
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 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12871 AgrOrtholog
COSMIC ZHX1 COSMIC
Ensembl Genes ENSG00000165156 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297857 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378938 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428821 UniProtKB/Swiss-Prot
  ENSP00000475324 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297857 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395571 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522655 UniProtKB/Swiss-Prot
  ENST00000602651 UniProtKB/TrEMBL
GTEx ENSG00000165156 GTEx
HGNC ID HGNC:12871 ENTREZGENE
Human Proteome Map ZHX1 Human Proteome Map
InterPro Homeobox UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot
  Homez_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZHX_Znf_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11244 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11244 ENTREZGENE
OMIM 604764 OMIM
Pfam Homeobox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homez UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf_C2H2_ZHX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37460 PharmGKB
PROSITE HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Homeodomain_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9F1 ENTREZGENE, UniProtKB/TrEMBL
  Q9UKY1 ENTREZGENE
  U3KPX4_HUMAN UniProtKB/TrEMBL
  ZHX1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IWD8 UniProtKB/Swiss-Prot