ZNF16 (zinc finger protein 16) - Rat Genome Database

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Gene: ZNF16 (zinc finger protein 16) Homo sapiens
Analyze
Symbol: ZNF16
Name: zinc finger protein 16
RGD ID: 1342906
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. Involved in several processes, including cellular response to sodium dodecyl sulfate; positive regulation of cell cycle phase transition; and positive regulation of myeloid cell differentiation. Localizes to nucleolus and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HZF1; KOX9; zinc finger protein 16 (kox 9); zinc finger protein KOX9; zinc finger protein Kruppel type 9
RGD Orthologs
Rat
Chinchilla
Bonobo
Dog
Squirrel
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 Ensembl8144,930,358 - 144,950,888 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,930,358 - 144,950,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378146,155,744 - 146,176,266 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368146,126,548 - 146,147,078 (-)NCBINCBI36hg18NCBI36
Build 348146,126,547 - 146,147,078NCBI
Celera8142,332,253 - 142,353,324 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,271,570 - 141,292,481 (-)NCBIHuRef
CHM1_18146,194,020 - 146,214,531 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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:2288909   PMID:7486829   PMID:8125298   PMID:11054286   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16628192   PMID:19274049   PMID:19763908   PMID:20346131   PMID:21468593  
PMID:21873635   PMID:21874239   PMID:21988832   PMID:24180487   PMID:25416956   PMID:28514442   PMID:29180619   PMID:29509190   PMID:32296183   PMID:32432340   PMID:32460791  


Genomics

Comparative Map Data
ZNF16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,930,358 - 144,950,888 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,930,358 - 144,950,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378146,155,744 - 146,176,266 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368146,126,548 - 146,147,078 (-)NCBINCBI36hg18NCBI36
Build 348146,126,547 - 146,147,078NCBI
Celera8142,332,253 - 142,353,324 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,271,570 - 141,292,481 (-)NCBIHuRef
CHM1_18146,194,020 - 146,214,531 (-)NCBICHM1_1
LOC102555319
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,650,694 - 108,670,246 (-)NCBI
Rnor_6.07117,991,941 - 118,009,284 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,976,853 - 117,981,285 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera7104,999,135 - 105,016,478 (-)NCBICelera
Cytogenetic Map7q34NCBI
Znf16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554543,429,311 - 3,467,033 (-)NCBIChiLan1.0ChiLan1.0
ZNF16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,693,057 - 144,709,011 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,690,470 - 144,709,776 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,712,252 - 141,715,322 (-)NCBIMhudiblu_PPA_v0panPan3
ZNF16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11338,161,591 - 38,175,809 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1338,163,114 - 38,175,724 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1338,122,346 - 38,136,557 (-)NCBI
ROS_Cfam_1.01338,635,409 - 38,649,643 (-)NCBI
UMICH_Zoey_3.11338,326,868 - 38,341,094 (-)NCBI
UNSW_CanFamBas_1.01338,435,682 - 38,449,899 (-)NCBI
UU_Cfam_GSD_1.01338,911,088 - 38,925,329 (-)NCBI
Znf16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530350,865 - 71,976 (+)NCBI
SpeTri2.0NW_00493738253,090 - 71,976 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF16
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18139,133,294 - 139,151,525 (-)NCBI
Znf16
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,007,982 - 12,030,327 (+)NCBI

Position Markers
SHGC-3212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378146,155,773 - 146,155,981UniSTSGRCh37
Build 368146,126,577 - 146,126,785RGDNCBI36
Celera8142,332,282 - 142,332,490RGD
Cytogenetic Map8q24UniSTS
HuRef8141,271,599 - 141,271,807UniSTS
RH44407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378146,155,843 - 146,156,021UniSTSGRCh37
Build 368146,126,647 - 146,126,825RGDNCBI36
Celera8142,332,352 - 142,332,530RGD
Cytogenetic Map8q24UniSTS
HuRef8141,271,669 - 141,271,847UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS
STS-H17016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378146,155,866 - 146,155,994UniSTSGRCh37
Build 368146,126,670 - 146,126,798RGDNCBI36
Celera8142,332,375 - 142,332,503RGD
Cytogenetic Map8q24UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS
WI-21609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378146,155,832 - 146,156,085UniSTSGRCh37
Build 368146,126,636 - 146,126,889RGDNCBI36
Celera8142,332,341 - 142,332,594RGD
Cytogenetic Map8q24UniSTS
HuRef8141,271,658 - 141,271,911UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS
Whitehead-RH Map8720.5UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS
D13S116  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map1q32UniSTS
sY3122  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map17p13.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1748
Count of miRNA genes:651
Interacting mature miRNAs:745
Transcripts:ENST00000276816, ENST00000394909, ENST00000527427, ENST00000527512, ENST00000527811, ENST00000529378, ENST00000532351, ENST00000532811
Prediction methods:Microtar, 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 397 403 326 10 34 10 1774 177 371 40 920 348 2 44 1264
Low 2042 2477 1399 613 1821 454 2581 2006 3360 378 540 1265 173 1 1160 1524 6 2
Below cutoff 111 1 1 96 1 1 14 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001029976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF235103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ117529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276816   ⟹   ENSP00000276816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,930,358 - 144,950,888 (-)Ensembl
RefSeq Acc Id: ENST00000394909   ⟹   ENSP00000378369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,930,358 - 144,950,880 (-)Ensembl
RefSeq Acc Id: ENST00000527427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,944,089 - 144,950,875 (-)Ensembl
RefSeq Acc Id: ENST00000527512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,932,405 - 144,950,875 (-)Ensembl
RefSeq Acc Id: ENST00000527811   ⟹   ENSP00000432755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,932,415 - 144,950,595 (-)Ensembl
RefSeq Acc Id: ENST00000529378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,945,924 - 144,948,530 (-)Ensembl
RefSeq Acc Id: ENST00000532351   ⟹   ENSP00000434321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,932,123 - 144,950,819 (-)Ensembl
RefSeq Acc Id: ENST00000532811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,932,144 - 144,948,035 (-)Ensembl
RefSeq Acc Id: ENST00000611477   ⟹   ENSP00000484504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,930,360 - 144,950,888 (-)Ensembl
RefSeq Acc Id: NM_001029976   ⟹   NP_001025147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,930,358 - 144,950,880 (-)NCBI
GRCh378146,155,744 - 146,176,274 (-)RGD
Build 368146,126,548 - 146,147,078 (-)NCBI Archive
Celera8142,332,253 - 142,353,324 (-)RGD
HuRef8141,271,570 - 141,292,481 (-)ENTREZGENE
CHM1_18146,194,020 - 146,214,531 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006958   ⟹   NP_008889
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,930,358 - 144,950,880 (-)NCBI
GRCh378146,155,744 - 146,176,274 (-)RGD
Build 368146,126,548 - 146,147,078 (-)NCBI Archive
Celera8142,332,253 - 142,353,324 (-)RGD
HuRef8141,271,570 - 141,292,481 (-)ENTREZGENE
CHM1_18146,194,020 - 146,214,531 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272342   ⟹   XP_005272399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,930,378 - 144,950,875 (-)NCBI
GRCh378146,155,744 - 146,176,274 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517298   ⟹   XP_011515600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,930,378 - 144,950,595 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447267   ⟹   XP_024303035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,930,386 - 144,950,860 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008889   ⟸   NM_006958
- UniProtKB: P17020 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001025147   ⟸   NM_001029976
- UniProtKB: P17020 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272399   ⟸   XM_005272342
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515600   ⟸   XM_011517298
- Peptide Label: isoform X1
- UniProtKB: P17020 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303035   ⟸   XM_024447267
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000434321   ⟸   ENST00000532351
RefSeq Acc Id: ENSP00000484504   ⟸   ENST00000611477
RefSeq Acc Id: ENSP00000378369   ⟸   ENST00000394909
RefSeq Acc Id: ENSP00000276816   ⟸   ENST00000276816
RefSeq Acc Id: ENSP00000432755   ⟸   ENST00000527811

Promoters
RGD ID:7214529
Promoter ID:EPDNEW_H13011
Type:initiation region
Name:ZNF16_1
Description:zinc finger protein 16
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
GRCh388144,950,819 - 144,950,879EPDNEW
RGD ID:6807178
Promoter ID:HG_KWN:62380
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001029976,   NM_006958
Position:
Human AssemblyChrPosition (strand)Source
Build 368146,146,784 - 146,147,284 (-)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 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(chr8:144913443-145076819)x1 copy number loss See cases [RCV000052822] Chr8:144913443..145076819 [GRCh38]
Chr8:146138828..146302205 [GRCh37]
Chr8:146109632..146273009 [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(chr8:244417-145054775)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 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 8q24.3(chr8:144925972-145054634)x1 copy number loss See cases [RCV000133727] Chr8:144925972..145054634 [GRCh38]
Chr8:146151358..146280020 [GRCh37]
Chr8:146122162..146250824 [NCBI36]
Chr8:8q24.3
benign
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 8q24.3(chr8:144935653-145049449)x3 copy number gain See cases [RCV000137226] Chr8:144935653..145049449 [GRCh38]
Chr8:146161039..146274835 [GRCh37]
Chr8:146131843..146245639 [NCBI36]
Chr8:8q24.3
benign
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 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 8q21.13-24.3(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 8q24.3(chr8:144925972-145010039)x3 copy number gain See cases [RCV000140856] Chr8:144925972..145010039 [GRCh38]
Chr8:146151358..146235425 [GRCh37]
Chr8:146122162..146206229 [NCBI36]
Chr8:8q24.3
likely benign
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 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:146157876-146231912)x3 copy number gain See cases [RCV000447491] Chr8:146157876..146231912 [GRCh37]
Chr8:8q24.3
likely benign
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 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 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:146078864-146293414)x3 copy number gain not provided [RCV000748045] Chr8:146078864..146293414 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146142510-146166217)x1 copy number loss not provided [RCV000748046] Chr8:146142510..146166217 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146151479-146245372)x3 copy number gain not provided [RCV000748047] Chr8:146151479..146245372 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146159770-146245372)x1 copy number loss not provided [RCV000748048] Chr8:146159770..146245372 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146171994-146172751)x1 copy number loss not provided [RCV000748049] Chr8:146171994..146172751 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146171994-146173636)x1 copy number loss not provided [RCV000748050] Chr8:146171994..146173636 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:146171994-146175137)x1 copy number loss not provided [RCV000748051] Chr8:146171994..146175137 [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(chr8:144190206-146295771)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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(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 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12947 AgrOrtholog
COSMIC ZNF16 COSMIC
Ensembl Genes ENSG00000170631 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276816 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378369 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432755 UniProtKB/TrEMBL
  ENSP00000434321 UniProtKB/TrEMBL
  ENSP00000484504 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276816 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394909 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527811 UniProtKB/TrEMBL
  ENST00000532351 UniProtKB/TrEMBL
  ENST00000611477 UniProtKB/Swiss-Prot
GTEx ENSG00000170631 GTEx
HGNC ID HGNC:12947 ENTREZGENE
Human Proteome Map ZNF16 Human Proteome Map
InterPro ZNF781 UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:7564 UniProtKB/Swiss-Prot
NCBI Gene 7564 ENTREZGENE
OMIM 601262 OMIM
PANTHER PTHR14947 UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA37530 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PNT9_HUMAN UniProtKB/TrEMBL
  E9PQV1_HUMAN UniProtKB/TrEMBL
  L8EAK2_HUMAN UniProtKB/TrEMBL
  P17020 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KXM4 UniProtKB/Swiss-Prot
  D3DWP2 UniProtKB/Swiss-Prot
  Q45SH7 UniProtKB/Swiss-Prot
  Q96FG0 UniProtKB/Swiss-Prot
  Q9NRA4 UniProtKB/Swiss-Prot