ZNF189 (zinc finger protein 189) - Rat Genome Database

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Gene: ZNF189 (zinc finger protein 189) Homo sapiens
Analyze
Symbol: ZNF189
Name: zinc finger protein 189
RGD ID: 1315167
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 regulation of transcription by RNA polymerase II. Predicted to localize to nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
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 Ensembl9101,398,873 - 101,410,660 (+)EnsemblGRCh38hg38GRCh38
GRCh389101,398,830 - 101,410,655 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379104,161,133 - 104,172,936 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369103,200,984 - 103,212,763 (+)NCBINCBI36hg18NCBI36
Build 349101,240,717 - 101,252,497NCBI
Celera974,674,768 - 74,686,547 (+)NCBI
Cytogenetic Map9q31.1NCBI
HuRef973,760,586 - 73,772,393 (+)NCBIHuRef
CHM1_19104,307,549 - 104,319,358 (+)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

Biological Process

Cellular Component
nucleus  (IBA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:9653648   PMID:10415338   PMID:12477932   PMID:15164053   PMID:15489334   PMID:16341674   PMID:16344560   PMID:16712791   PMID:20634891   PMID:21873635   PMID:22020285  
PMID:23503679   PMID:24412244   PMID:26186194   PMID:28514442   PMID:28611215   PMID:28986522   PMID:29180619   PMID:29844126  


Genomics

Comparative Map Data
ZNF189
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9101,398,873 - 101,410,660 (+)EnsemblGRCh38hg38GRCh38
GRCh389101,398,830 - 101,410,655 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379104,161,133 - 104,172,936 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369103,200,984 - 103,212,763 (+)NCBINCBI36hg18NCBI36
Build 349101,240,717 - 101,252,497NCBI
Celera974,674,768 - 74,686,547 (+)NCBI
Cytogenetic Map9q31.1NCBI
HuRef973,760,586 - 73,772,393 (+)NCBIHuRef
CHM1_19104,307,549 - 104,319,358 (+)NCBICHM1_1
Zfp189
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39449,521,176 - 49,531,558 (+)NCBIGRCm39mm39
GRCm39 Ensembl449,521,176 - 49,531,517 (+)Ensembl
GRCm38449,521,176 - 49,531,558 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl449,521,176 - 49,531,517 (+)EnsemblGRCm38mm10GRCm38
MGSCv37449,534,089 - 49,544,417 (+)NCBIGRCm37mm9NCBIm37
MGSCv36449,542,326 - 49,552,641 (+)NCBImm8
Celera449,549,471 - 49,559,799 (+)NCBICelera
Cytogenetic Map4B1NCBI
Zfp189
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2563,872,596 - 63,884,348 (+)NCBI
Rnor_6.0 Ensembl564,789,456 - 64,800,810 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0564,789,432 - 64,801,079 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0569,280,812 - 69,292,492 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4566,266,848 - 66,278,203 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1566,272,310 - 66,283,349 (+)NCBI
Celera563,723,898 - 63,735,254 (-)NCBICelera
Cytogenetic Map5q22NCBI
Znf189
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541924,404,827 - 24,416,093 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541924,403,858 - 24,416,395 (-)NCBIChiLan1.0ChiLan1.0
ZNF189
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19100,601,555 - 100,613,409 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9100,601,561 - 100,613,409 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0972,607,439 - 72,619,319 (+)NCBIMhudiblu_PPA_v0panPan3
ZNF189
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11158,129,654 - 58,141,727 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1158,129,001 - 58,140,713 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1156,574,085 - 56,587,449 (+)NCBI
ROS_Cfam_1.01159,265,136 - 59,278,502 (+)NCBI
UMICH_Zoey_3.11157,774,881 - 57,788,233 (+)NCBI
UNSW_CanFamBas_1.01157,787,957 - 57,801,309 (+)NCBI
UU_Cfam_GSD_1.01158,485,508 - 58,498,883 (+)NCBI
Znf189
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947173,017,018 - 173,028,296 (+)NCBI
SpeTri2.0NW_0049365249,564,599 - 9,575,783 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF189
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1243,106,972 - 243,118,344 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11243,106,911 - 243,117,929 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21271,660,787 - 271,718,975 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF189
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11238,030,256 - 38,042,169 (-)NCBI
Znf189
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247589,888,113 - 9,900,933 (-)NCBI

Position Markers
D9S950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379104,160,596 - 104,160,749UniSTSGRCh37
Build 369103,200,417 - 103,200,570RGDNCBI36
Celera974,674,201 - 74,674,354RGD
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map9q22-q31UniSTS
HuRef973,760,046 - 73,760,199UniSTS
Whitehead-YAC Contig Map9 UniSTS
RH94369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379104,172,460 - 104,172,595UniSTSGRCh37
Build 369103,212,281 - 103,212,416RGDNCBI36
Celera974,686,065 - 74,686,200RGD
Cytogenetic Map9q22-q31UniSTS
HuRef973,771,911 - 73,772,046UniSTS
GeneMap99-GB4 RH Map9327.06UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:960
Count of miRNA genes:271
Interacting mature miRNAs:282
Transcripts:ENST00000259395, ENST00000339664, ENST00000374861
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1958 1360 1471 337 1138 230 2525 1271 2970 314 1348 1394 118 1035 1561 3 1
Low 481 1581 254 287 763 235 1832 926 764 105 112 218 56 1 169 1227 3 1
Below cutoff 50 1 50 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_197977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF025770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL046790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM820380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM996467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX420042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX497070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX497641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB162392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB851970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD518756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB077406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259395   ⟹   ENSP00000259395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9101,399,028 - 101,410,660 (+)Ensembl
RefSeq Acc Id: ENST00000339664   ⟹   ENSP00000342019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9101,399,028 - 101,410,660 (+)Ensembl
RefSeq Acc Id: ENST00000374861   ⟹   ENSP00000363995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9101,398,873 - 101,410,660 (+)Ensembl
RefSeq Acc Id: ENST00000615466   ⟹   ENSP00000483461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9101,399,089 - 101,409,937 (+)Ensembl
RefSeq Acc Id: NM_001278231   ⟹   NP_001265160
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,851 - 101,410,654 (+)NCBI
GRCh379104,161,136 - 104,172,942 (+)NCBI
HuRef973,760,586 - 73,772,393 (+)NCBI
CHM1_19104,307,549 - 104,319,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278232   ⟹   NP_001265161
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,851 - 101,410,654 (+)NCBI
GRCh379104,161,136 - 104,172,942 (+)NCBI
HuRef973,760,586 - 73,772,393 (+)NCBI
CHM1_19104,307,549 - 104,319,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278240   ⟹   NP_001265169
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,851 - 101,410,654 (+)NCBI
HuRef973,760,586 - 73,772,393 (+)NCBI
CHM1_19104,307,549 - 104,319,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003452   ⟹   NP_003443
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,851 - 101,410,654 (+)NCBI
GRCh379104,161,136 - 104,172,942 (+)NCBI
Build 369103,200,984 - 103,212,763 (+)NCBI Archive
Celera974,674,768 - 74,686,547 (+)RGD
HuRef973,760,586 - 73,772,393 (+)NCBI
CHM1_19104,307,549 - 104,319,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_197977   ⟹   NP_932094
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,851 - 101,410,654 (+)NCBI
GRCh379104,161,136 - 104,172,942 (+)NCBI
Build 369103,200,984 - 103,212,763 (+)NCBI Archive
Celera974,674,768 - 74,686,547 (+)RGD
HuRef973,760,586 - 73,772,393 (+)NCBI
CHM1_19104,307,549 - 104,319,358 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103480
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,851 - 101,410,654 (+)NCBI
HuRef973,760,586 - 73,772,393 (+)NCBI
CHM1_19104,307,549 - 104,319,358 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717280   ⟹   XP_006717343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,838 - 101,410,655 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717281   ⟹   XP_006717344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,830 - 101,410,655 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518998   ⟹   XP_011517300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,838 - 101,410,655 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518999   ⟹   XP_011517301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,403,607 - 101,410,655 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015121   ⟹   XP_016870610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,399,589 - 101,410,655 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_932094   ⟸   NM_197977
- Peptide Label: isoform 2
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003443   ⟸   NM_003452
- Peptide Label: isoform 1
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265169   ⟸   NM_001278240
- Peptide Label: isoform 5
- UniProtKB: O75820 (UniProtKB/Swiss-Prot),   A0A087X0K2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265160   ⟸   NM_001278231
- Peptide Label: isoform 3
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265161   ⟸   NM_001278232
- Peptide Label: isoform 4
- UniProtKB: O75820 (UniProtKB/Swiss-Prot),   B7ZLK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717343   ⟸   XM_006717280
- Peptide Label: isoform X1
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717344   ⟸   XM_006717281
- Peptide Label: isoform X1
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517300   ⟸   XM_011518998
- Peptide Label: isoform X1
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517301   ⟸   XM_011518999
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016870610   ⟸   XM_017015121
- Peptide Label: isoform X1
- UniProtKB: O75820 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000363995   ⟸   ENST00000374861
RefSeq Acc Id: ENSP00000259395   ⟸   ENST00000259395
RefSeq Acc Id: ENSP00000342019   ⟸   ENST00000339664
RefSeq Acc Id: ENSP00000483461   ⟸   ENST00000615466
Protein Domains
C2H2-type   KRAB

Promoters
RGD ID:7215707
Promoter ID:EPDNEW_H13600
Type:initiation region
Name:ZNF189_1
Description:zinc finger protein 189
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389101,398,890 - 101,398,950EPDNEW
RGD ID:6808445
Promoter ID:HG_KWN:64347
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:ENST00000374861,   NM_003452,   NM_197977,   OTTHUMT00000053450,   UC004BBF.2
Position:
Human AssemblyChrPosition (strand)Source
Build 369103,200,501 - 103,201,307 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1 copy number loss See cases [RCV000138281] Chr9:99024205..109947890 [GRCh38]
Chr9:101786487..112710170 [GRCh37]
Chr9:100826308..111749991 [NCBI36]
Chr9:9q22.33-31.3
pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_102339410)_(109549354_?)del deletion Schizophrenia [RCV000416788] Chr9:102339410..109549354 [GRCh37]
Chr9:101379231..108589175 [NCBI36]
Chr9:9q22.33-31.2
likely pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 copy number loss See cases [RCV000447957] Chr9:103271401..113948226 [GRCh37]
Chr9:9q31.1-31.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2
pathogenic
GRCh37/hg19 9q31.1(chr9:103872812-104974365)x3 copy number gain not provided [RCV001259038] Chr9:103872812..104974365 [GRCh37]
Chr9:9q31.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12980 AgrOrtholog
COSMIC ZNF189 COSMIC
Ensembl Genes ENSG00000136870 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000259395 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000342019 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363995 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483461 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000259395 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000339664 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374861 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615466 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000136870 GTEx
HGNC ID HGNC:12980 ENTREZGENE
Human Proteome Map ZNF189 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7743 UniProtKB/Swiss-Prot
NCBI Gene 7743 ENTREZGENE
OMIM 603132 OMIM
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37561 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0K2 ENTREZGENE, UniProtKB/TrEMBL
  B7ZLK9 ENTREZGENE, UniProtKB/TrEMBL
  O75820 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O75802 UniProtKB/Swiss-Prot
  Q5T7D7 UniProtKB/Swiss-Prot
  Q5T7D8 UniProtKB/Swiss-Prot
  Q5T7D9 UniProtKB/Swiss-Prot
  Q9UBL4 UniProtKB/Swiss-Prot
  Q9UPE9 UniProtKB/Swiss-Prot
  Q9UPF0 UniProtKB/Swiss-Prot
  Q9UPF1 UniProtKB/Swiss-Prot