WASHC1 (WASH complex subunit 1) - Rat Genome Database

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Gene: WASHC1 (WASH complex subunit 1) Homo sapiens
Analyze
Symbol: WASHC1
Name: WASH complex subunit 1
RGD ID: 1626557
HGNC Page HGNC
Description: Exhibits alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including endosomal transport; extracellular matrix disassembly; and positive regulation of cellular component biogenesis. Localizes to WASH complex; early endosome; and intracellular membrane-bounded organelle. Colocalizes with exocyst; PARTICIPATES IN retromer-mediated pathway; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: actin nucleation promoting factor; CXYorf1-like protein on chromosome 9; DKFZp434K1323; FAM39E; family with sequence similarity 39, member E; FLJ00038; FLJ00075 protein; FLJ75027; FLJ99609; MGC190539; MGC193256; WAS protein family homolog 1; WASH; WASH1
RGD Orthologs
Mouse
Rat
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: WASH2P   WASH3P   WASH4P   WASH5P   WASH6P   WASH7P   WASH8P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl914,475 - 73,865 (-)EnsemblGRCh38hg38GRCh38
GRCh38914,475 - 30,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37914,513 - 29,739 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,764,816 - 57,767,433 (-)NCBINCBI36hg18NCBI36
Cytogenetic Map9p24.3NCBI
CHM1_1914,312 - 29,934 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:10655549   PMID:11701968   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15233989   PMID:18159949   PMID:19922874   PMID:19922875   PMID:20175130   PMID:20923837  
PMID:22114305   PMID:22513087   PMID:22939629   PMID:23452853   PMID:23974797   PMID:24344185   PMID:24643499   PMID:24819384   PMID:24980959   PMID:25355947   PMID:25431135   PMID:26041286  
PMID:26066081   PMID:26365382   PMID:26638075   PMID:27441653   PMID:27909246   PMID:28551275   PMID:28589939   PMID:29229926   PMID:29891722   PMID:29893854   PMID:32296183  


Genomics

Comparative Map Data
WASHC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl914,475 - 73,865 (-)EnsemblGRCh38hg38GRCh38
GRCh38914,475 - 30,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37914,513 - 29,739 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,764,816 - 57,767,433 (-)NCBINCBI36hg18NCBI36
Cytogenetic Map9p24.3NCBI
CHM1_1914,312 - 29,934 (-)NCBICHM1_1
Washc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391766,418,524 - 66,427,498 (+)NCBIGRCm39mm39
GRCm39 Ensembl1766,418,540 - 66,427,498 (+)Ensembl
GRCm381766,111,529 - 66,120,503 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1766,111,545 - 66,120,503 (+)EnsemblGRCm38mm10GRCm38
MGSCv371766,460,886 - 66,469,843 (+)NCBIGRCm37mm9NCBIm37
MGSCv361766,011,089 - 66,020,046 (+)NCBImm8
Celera1770,419,820 - 70,428,779 (+)NCBICelera
Cytogenetic Map17E1.1NCBI
Washc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.29105,722,779 - 105,830,836 (+)NCBI
Rnor_6.0 Ensembl9113,918,858 - 113,936,860 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.09113,918,914 - 113,936,861 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.09113,443,351 - 113,459,272 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49104,885,755 - 104,896,516 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.19105,095,204 - 105,105,650 (+)NCBI
Celera9103,300,490 - 103,302,995 (-)NCBICelera
Cytogenetic Map9q37NCBI
WASHC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12742,102,694 - 42,118,850 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2742,099,886 - 42,116,339 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,564,689 - 4,581,124 (+)NCBI
ROS_Cfam_1.02742,461,263 - 42,477,702 (-)NCBI
UMICH_Zoey_3.12742,402,542 - 42,419,383 (-)NCBI
UNSW_CanFamBas_1.02742,372,199 - 42,388,638 (-)NCBI
UU_Cfam_GSD_1.0273,924,862 - 3,941,306 (+)NCBI
Washc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945108,955,066 - 108,974,812 (+)NCBI
SpeTri2.0NW_004936606209,289 - 228,986 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WASHC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl567,391,277 - 67,412,434 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1567,395,737 - 67,412,408 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2569,630,618 - 69,644,438 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WASHC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,075 - 27,633 (-)NCBI
ChlSab1.1 Ensembl118,116 - 22,842 (-)Ensembl
Washc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624828249,994 - 269,347 (+)NCBI

Position Markers
RH26395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,524 - 14,629UniSTSGRCh37
Build 3694,524 - 4,629RGDNCBI36
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2q13UniSTS
G54113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37114,596 - 14,719UniSTSGRCh37
GRCh3715102,516,446 - 102,516,569UniSTSGRCh37
Build 3614,459 - 4,582RGDNCBI36
Cytogenetic Map6p25.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map1p36.33UniSTS
ECD09355  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2q13UniSTS
ECD12236  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2q13UniSTS
stSG608804  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map1p36.33UniSTS
stSG608805  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p24.3UniSTS
stSG608806  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p24.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1187
Count of miRNA genes:518
Interacting mature miRNAs:584
Transcripts:ENST00000330546, ENST00000399972, ENST00000442898, ENST00000442926
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1609 1366 995 176 933 78 2740 825 1860 145 1133 1116 100 764 1691 1
Low 823 1616 728 446 978 386 1615 1365 1848 273 315 492 70 440 1097 3
Below cutoff 2 35 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001378090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK024448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL928970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM970740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN404407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU240548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU240557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000442898   ⟹   ENSP00000485627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,475 - 29,739 (-)Ensembl
RefSeq Acc Id: ENST00000642633   ⟹   ENSP00000494459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl924,892 - 73,865 (-)Ensembl
RefSeq Acc Id: NM_001378090   ⟹   NP_001365019
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,513 - 29,456 (-)NCBI
RefSeq Acc Id: NM_182905   ⟹   NP_878908
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,513 - 29,739 (-)NCBI
GRCh37914,511 - 29,739 (-)RGD
Build 3694,517 - 7,479 (-)NCBI Archive
CHM1_1914,312 - 29,934 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517659   ⟹   XP_011515961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 30,487 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517660   ⟹   XP_011515962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 30,487 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517662   ⟹   XP_011515964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 29,202 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517663   ⟹   XP_011515965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 25,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517664   ⟹   XP_011515966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 25,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517665   ⟹   XP_011515967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 19,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517666   ⟹   XP_011515968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 30,487 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014169   ⟹   XP_016869658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 24,941 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014170   ⟹   XP_016869659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 25,007 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014171   ⟹   XP_016869660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 29,388 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014172   ⟹   XP_016869661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 26,985 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014173   ⟹   XP_016869662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38916,730 - 29,566 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447369   ⟹   XP_024303137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 29,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447370   ⟹   XP_024303138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 25,008 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956737
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 30,487 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956738
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 26,984 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956739
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 25,008 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956740
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 25,008 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956741
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38915,081 - 29,566 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929142
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,475 - 29,566 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_878908   ⟸   NM_182905
- UniProtKB: A8K0Z3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515968   ⟸   XM_011517666
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011515962   ⟸   XM_011517660
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515961   ⟸   XM_011517659
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515964   ⟸   XM_011517662
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515966   ⟸   XM_011517664
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011515965   ⟸   XM_011517663
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515967   ⟸   XM_011517665
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869660   ⟸   XM_017014171
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016869661   ⟸   XM_017014172
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016869659   ⟸   XM_017014170
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016869658   ⟸   XM_017014169
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869662   ⟸   XM_017014173
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_024303137   ⟸   XM_024447369
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303138   ⟸   XM_024447370
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001365019   ⟸   NM_001378090
RefSeq Acc Id: ENSP00000485627   ⟸   ENST00000442898
RefSeq Acc Id: ENSP00000494459   ⟸   ENST00000642633
Protein Domains
WASH_WAHD   WH2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:13997-118241)x3 copy number gain See cases [RCV000449076] Chr9:13997..118241 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NC_000009.12:g.(?_10000)_(400952_?)del deletion Schizophrenia [RCV000754357] Chr9:10000..400952 [GRCh38]
Chr9:9p24.3
likely 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(chr9:10590-364675)x3 copy number gain not provided [RCV000748052] Chr9:10590..364675 [GRCh37]
Chr9:9p24.3
benign
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(chr9:21234-191843)x3 copy number gain not provided [RCV000748056] Chr9:21234..191843 [GRCh37]
Chr9:9p24.3
benign
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
Single allele deletion Chromosome 9p deletion syndrome [RCV001174506] Chr9:1..190938 [GRCh38]
Chr9:9p24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24361 AgrOrtholog
COSMIC WASHC1 COSMIC
Ensembl Genes ENSG00000181404 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000485627 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494459 UniProtKB/TrEMBL
Ensembl Transcript ENST00000442898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642633 UniProtKB/TrEMBL
GTEx ENSG00000181404 GTEx
HGNC ID HGNC:24361 ENTREZGENE
Human Proteome Map WASHC1 Human Proteome Map
InterPro WASH1 UniProtKB/Swiss-Prot
  WASH1_WAHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100287171 UniProtKB/Swiss-Prot
NCBI Gene 100287171 ENTREZGENE
OMIM 613632 OMIM
PANTHER PTHR23331 UniProtKB/Swiss-Prot
Pfam WASH_WAHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162409121 PharmGKB
UniProt A0A2R8YDD3_HUMAN UniProtKB/TrEMBL
  A8K0Z3 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-25 WASHC1  WASH complex subunit 1  WASH1  WAS protein family homolog 1  Symbol and/or name change 5135510 APPROVED