Gene Gene information from NCBI Gene database.
Entrez ID 51322
Gene name WW domain containing adaptor with coiled-coil
Gene symbol WAC
Synonyms (NCBI Gene)
BM-016DESSHPRO1741Wwp4
Chromosome 10
Chromosome location 10p12.1|10p12.1-p11.2
Summary The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs864321634 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs864321689 AGAG>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs864321690 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs864321691 ->GG Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs864321692 C>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
972
miRTarBase ID miRNA Experiments Reference
MIRT051026 hsa-miR-17-5p CLASH 23622248
MIRT050717 hsa-miR-18a-5p CLASH 23622248
MIRT050624 hsa-miR-20a-5p CLASH 23622248
MIRT048913 hsa-miR-93-5p CLASH 23622248
MIRT046410 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000993 Function RNA polymerase II complex binding IBA
GO:0000993 Function RNA polymerase II complex binding IDA 21329877
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 21329877
GO:0005515 Function Protein binding IPI 16189514, 17500595, 21329877, 25416956, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615049 17327 ENSG00000095787
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BTA9
Protein name WW domain-containing adapter protein with coiled-coil
Protein function Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) (PubMed:21329877). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 132 160 WW domain Domain
Sequence
MVMYARKQQRLSDGCHDRRGDSQPYQALKYSSKSHPSSGDHRHEKMRDAGDPSPPNKMLR
RSDSPENKYSDSTGHSKAKNVHTHRVRERDGGTSYSPQENSHNHSALHSSNSHSSNPSNN
PSKTSDAPYDSADDWSEHISSSGKKYYYNCRTEVSQWEKPKEWLEREQRQKEANKMAVNS
FPKDRDYRREVMQATATSGFASGMEDKHSSDASSLLPQNILSQTSRHNDRDYRLPRAETH
SSSTPVQHPIKPVVHPTATPSTVPSSPFTLQSDHQPKKSFDANGASTLSKLPTPTSSVPA
QKTERKESTSGDKPVSHSCTTPSTSSASGLNPTSAPPTSASAVPVSPVPQSPIPPLLQDP
NLLRQLLPALQATLQLNNSNVDISKINEVLTAAVTQASLQSIIHKFLTAGPSAFNITSLI
SQAAQLSTQAQPSNQSPMSLTSDASSPRSYVSPRISTPQTNTVPIKPLISTPPVSSQPKV
STPVVKQGPVSQSATQQPVTADKQQGHEPVSPRSLQRSSSQRSPSPGPNHTSNSSNASNA
TVVPQNSSARSTCSLTPALAAHFSENLIKHVQGWPADHAEKQASRLREEAHNMGTIHMSE
ICTELKNLRSLVRVCEIQATLREQRILFLRQQIKELEKLKNQNSFMV
Sequence length 647
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    E3 ubiquitin ligases ubiquitinate target proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Likely pathogenic rs1554791975 RCV005900096
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DeSanto-Shinawi syndrome Pathogenic rs2132862551 RCV002272832
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DeSanto-Shinawi syndrome due to WAC point mutation Pathogenic; Likely pathogenic rs1841061596, rs2132834429, rs2132709607, rs2132825843, rs753403940, rs2132628986, rs1836464000, rs754451905, rs2132669171, rs2132826154, rs2132853185, rs2132669368, rs2491537238, rs2491536548, rs774496658
View all (29 more)
RCV001332151
RCV001807529
RCV001807530
RCV001785133
RCV001784026
View all (40 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1085307480 RCV005621954
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM, DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28690313
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 35052433 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Auditory Perceptual Disorders Auditory perceptual disorder Pubtator 35052433 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 26264232
★☆☆☆☆
Found in Text Mining only
Behavior Disorders Behavior Disorders BEFREE 27119754
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only