ZNF205 (zinc finger protein 205) - Rat Genome Database

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Gene: ZNF205 (zinc finger protein 205) Homo sapiens
Analyze
Symbol: ZNF205
Name: zinc finger protein 205
RGD ID: 1312095
HGNC Page HGNC
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of hydrogen peroxide biosynthetic process; and positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. Predicted to be located in mitochondrion and nucleus; INTERACTS WITH amiodarone; aristolochic acid; butanal.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: RhitH; transcriptional repressor RhitH; Zfp13; zinc finger protein 210; ZNF210
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 Ensembl163,112,560 - 3,120,517 (+)EnsemblGRCh38hg38GRCh38
GRCh38163,112,586 - 3,120,517 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,162,587 - 3,170,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,102,564 - 3,110,519 (+)NCBINCBI36hg18NCBI36
Build 34163,102,606 - 3,110,517NCBI
Celera163,368,041 - 3,375,998 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef163,133,684 - 3,141,647 (+)NCBIHuRef
CHM1_1163,162,502 - 3,170,455 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
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:9787081   PMID:12477932   PMID:15489334   PMID:16189514   PMID:16712791   PMID:16713569   PMID:18029348   PMID:19274049   PMID:19460752   PMID:20231359   PMID:21873635   PMID:21900206  
PMID:22306510   PMID:26760575   PMID:28986522   PMID:29180619   PMID:30804502   PMID:32296183  


Genomics

Comparative Map Data
ZNF205
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl163,112,560 - 3,120,517 (+)EnsemblGRCh38hg38GRCh38
GRCh38163,112,586 - 3,120,517 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,162,587 - 3,170,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,102,564 - 3,110,519 (+)NCBINCBI36hg18NCBI36
Build 34163,102,606 - 3,110,517NCBI
Celera163,368,041 - 3,375,998 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef163,133,684 - 3,141,647 (+)NCBIHuRef
CHM1_1163,162,502 - 3,170,455 (+)NCBICHM1_1
Zfp13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391723,788,820 - 23,818,729 (-)NCBIGRCm39mm39
GRCm39 Ensembl1723,794,818 - 23,818,461 (-)Ensembl
GRCm381723,569,846 - 23,599,755 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1723,575,844 - 23,599,487 (-)EnsemblGRCm38mm10GRCm38
MGSCv371723,712,819 - 23,736,454 (-)NCBIGRCm37mm9NCBIm37
MGSCv361723,303,474 - 23,327,109 (-)NCBImm8
Celera1724,079,986 - 24,105,096 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
Zfp13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21012,615,470 - 12,623,615 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1012,615,190 - 12,623,615 (-)Ensembl
Rnor_6.01012,908,643 - 12,916,784 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1012,908,643 - 12,916,784 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01012,729,940 - 12,738,081 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41012,846,897 - 12,855,039 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11012,847,100 - 12,860,555 (-)NCBI
Celera1012,311,879 - 12,320,076 (-)NCBICelera
Cytogenetic Map10q12NCBI
Znf205
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544214,242,423 - 14,249,309 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544214,242,239 - 14,249,276 (-)NCBIChiLan1.0ChiLan1.0
ZNF205
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1163,233,372 - 3,241,216 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl163,233,794 - 3,241,216 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0162,054,056 - 2,061,992 (+)NCBIMhudiblu_PPA_v0panPan3
ZNF205
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,085,069 - 38,095,012 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,085,231 - 38,097,678 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha639,326,648 - 39,336,612 (-)NCBI
ROS_Cfam_1.0638,396,682 - 38,406,643 (-)NCBI
UMICH_Zoey_3.1638,082,747 - 38,092,708 (-)NCBI
UNSW_CanFamBas_1.0638,055,200 - 38,065,164 (-)NCBI
UU_Cfam_GSD_1.0638,530,903 - 38,540,867 (-)NCBI
Znf205
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344105,624,313 - 105,636,830 (+)NCBI
SpeTri2.0NW_0049366941,072,633 - 1,084,923 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF205
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,091,439 - 39,123,443 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,091,439 - 39,105,633 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2340,478,579 - 40,483,042 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF205
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.152,827,888 - 2,844,569 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl52,837,617 - 2,844,383 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606827,981,443 - 27,989,788 (-)NCBIVero_WHO_p1.0
Znf205
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624824837,369 - 852,439 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH119820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,163,075 - 3,163,401UniSTSGRCh37
Build 36163,103,076 - 3,103,402RGDNCBI36
Celera163,368,553 - 3,368,879RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,134,196 - 3,134,522UniSTS
TNG Radiation Hybrid Map161849.0UniSTS
D16S3368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,161,251 - 3,161,360UniSTSGRCh37
GRCh37X73,119,288 - 73,119,532UniSTSGRCh37
Build 36X73,036,013 - 73,036,257RGDNCBI36
CeleraX73,402,768 - 73,403,012RGD
Celera163,366,729 - 3,366,838UniSTS
HuRef163,132,372 - 3,132,481UniSTS
STS-W93354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,170,321 - 3,170,513UniSTSGRCh37
Build 36163,110,322 - 3,110,514RGDNCBI36
Celera163,375,801 - 3,375,993RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,141,450 - 3,141,642UniSTS
GeneMap99-GB4 RH Map1647.12UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1675
Count of miRNA genes:689
Interacting mature miRNAs:829
Transcripts:ENST00000219091, ENST00000382192, ENST00000414351, ENST00000444510, ENST00000570935
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 1955 1270 1261 249 241 124 3371 927 2281 297 1107 1478 138 871 1912 4
Low 484 1456 462 375 1298 341 985 1268 1453 122 353 133 36 1 333 875 2 2
Below cutoff 262 349 1 2 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000219091   ⟹   ENSP00000219091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,112,586 - 3,120,517 (+)Ensembl
RefSeq Acc Id: ENST00000382192   ⟹   ENSP00000371627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,112,560 - 3,120,517 (+)Ensembl
RefSeq Acc Id: ENST00000414351   ⟹   ENSP00000403306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,112,795 - 3,119,496 (+)Ensembl
RefSeq Acc Id: ENST00000444510   ⟹   ENSP00000394360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,112,661 - 3,115,911 (+)Ensembl
RefSeq Acc Id: ENST00000570935   ⟹   ENSP00000460890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,115,521 - 3,119,760 (+)Ensembl
RefSeq Acc Id: ENST00000620094   ⟹   ENSP00000480401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,112,579 - 3,120,515 (+)Ensembl
RefSeq Acc Id: NM_001042428   ⟹   NP_001035893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,112,586 - 3,120,517 (+)NCBI
GRCh37163,162,563 - 3,170,528 (+)NCBI
Build 36163,102,564 - 3,110,519 (+)NCBI Archive
Celera163,368,041 - 3,375,998 (+)RGD
HuRef163,133,684 - 3,141,647 (+)RGD
CHM1_1163,162,502 - 3,170,455 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278158   ⟹   NP_001265087
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,112,586 - 3,120,517 (+)NCBI
GRCh37163,162,563 - 3,170,528 (+)NCBI
HuRef163,133,684 - 3,141,647 (+)NCBI
CHM1_1163,162,519 - 3,170,455 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003456   ⟹   NP_003447
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,112,586 - 3,120,517 (+)NCBI
Build 36163,102,564 - 3,110,519 (+)NCBI Archive
Celera163,368,041 - 3,375,998 (+)RGD
HuRef163,133,684 - 3,141,647 (+)RGD
CHM1_1163,162,502 - 3,170,455 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255558   ⟹   XP_005255615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,112,795 - 3,120,517 (+)NCBI
GRCh37163,162,563 - 3,170,528 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003447   ⟸   NM_003456
- UniProtKB: O95201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035893   ⟸   NM_001042428
- UniProtKB: O95201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265087   ⟸   NM_001278158
- UniProtKB: O95201 (UniProtKB/Swiss-Prot),   I0J0A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255615   ⟸   XM_005255558
- Peptide Label: isoform X1
- UniProtKB: O95201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000480401   ⟸   ENST00000620094
RefSeq Acc Id: ENSP00000460890   ⟸   ENST00000570935
RefSeq Acc Id: ENSP00000403306   ⟸   ENST00000414351
RefSeq Acc Id: ENSP00000219091   ⟸   ENST00000219091
RefSeq Acc Id: ENSP00000394360   ⟸   ENST00000444510
RefSeq Acc Id: ENSP00000371627   ⟸   ENST00000382192
Protein Domains
C2H2-type   KRAB

Promoters
RGD ID:6793644
Promoter ID:HG_KWN:22867
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001042428,   OTTHUMT00000309057,   OTTHUMT00000309059,   OTTHUMT00000309060,   UC010BTD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36163,102,279 - 3,102,779 (+)MPROMDB
RGD ID:7231131
Promoter ID:EPDNEW_H21312
Type:initiation region
Name:ZNF205_1
Description:zinc finger protein 205
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
GRCh38163,112,586 - 3,112,646EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3 copy number gain See cases [RCV000052394] Chr16:2326840..3487106 [GRCh38]
Chr16:2376841..3537106 [GRCh37]
Chr16:2316842..3477107 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 copy number gain See cases [RCV000052395] Chr16:2717952..4041020 [GRCh38]
Chr16:2767953..4091021 [GRCh37]
Chr16:2707954..4031022 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1 copy number loss See cases [RCV000053269] Chr16:2494804..3246579 [GRCh38]
Chr16:2544805..3296579 [GRCh37]
Chr16:2484806..3236580 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3 copy number gain See cases [RCV000139806] Chr16:3061267..3666094 [GRCh38]
Chr16:3111268..3716095 [GRCh37]
Chr16:3051269..3656096 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3 copy number gain See cases [RCV000240036] Chr16:3104050..3722491 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3 copy number gain See cases [RCV000240318] Chr16:2867891..3942436 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2980929-3398023)x3 copy number gain See cases [RCV000446345] Chr16:2980929..3398023 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3 copy number gain See cases [RCV000512346] Chr16:2606710..3382546 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3165683-3194830)x1 copy number loss not provided [RCV000739011] Chr16:3165683..3194830 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:3170210-3194830)x1 copy number loss not provided [RCV000739012] Chr16:3170210..3194830 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:3139190-3194830)x3 copy number gain not provided [RCV000751544] Chr16:3139190..3194830 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3 copy number gain not provided [RCV000762721] Chr16:3100528..3305985 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3 copy number gain not provided [RCV000849936] Chr16:3112024..3738078 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12996 AgrOrtholog
COSMIC ZNF205 COSMIC
Ensembl Genes ENSG00000122386 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000219091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371627 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394360 UniProtKB/TrEMBL
  ENSP00000403306 UniProtKB/TrEMBL
  ENSP00000460890 UniProtKB/TrEMBL
  ENSP00000480401 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000219091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382192 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414351 UniProtKB/TrEMBL
  ENST00000444510 UniProtKB/TrEMBL
  ENST00000570935 UniProtKB/TrEMBL
  ENST00000620094 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000122386 GTEx
HGNC ID HGNC:12996 ENTREZGENE
Human Proteome Map ZNF205 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:7755 UniProtKB/Swiss-Prot
NCBI Gene 7755 ENTREZGENE
OMIM 603436 OMIM
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37576 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 C9JEY6_HUMAN UniProtKB/TrEMBL
  C9JS60_HUMAN UniProtKB/TrEMBL
  I0J0A3 ENTREZGENE, UniProtKB/TrEMBL
  I3L417_HUMAN UniProtKB/TrEMBL
  O95201 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MZK0 UniProtKB/Swiss-Prot
  D3DUB4 UniProtKB/Swiss-Prot
  Q9BU95 UniProtKB/Swiss-Prot