Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56964
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 93
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR93
Synonyms (NCBI Gene) Gene synonyms aliases
C1d-87, CFAP297, FAP297
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs730882204 T>C Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant, intron variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005747 Component Mitochondrial respiratory chain complex I IBA 21873635
GO:0016651 Function Oxidoreductase activity, acting on NAD(P)H IEA
GO:0022900 Process Electron transport chain IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619891 26924 ENSG00000140527
Protein
UniProt ID Q6P2C0
Protein name WD repeat-containing protein 93
Family and domains
Sequence
MSFPRGSQTQKIKHPIGTRKGPLEVPPPTEKDWPKDDEQDHVLVDPDEELDSLPQPYRMI
NKLVNLLFDQSWEIIEERNALREAESSQIQPTVYPPLGEIQLNKMPNCMAVSQDYVFIGG
AKGFSIYNLYSAKQIYAWEKLKVDVTSIWATDLGNEILIAPVDEMGIIRLFYFYKEGLYL
VKAINEVDDTSKQTTCIKMEISQGGDFAAFLLQGAGDIWLDVYKLPKETWLKKLEHPQLT
SNPKKKVRQPQLNSLGPISADPLEMDANVSFKGDIKLSLPVYIMKIKPPKPVTGTTFKSP
LEVFAKIKDCYGLGSGQNHFIKDSQWEQQAEIFNASYKKYLDREWEEEPLSTATFYFLLP
SCLFAMPPEVKGPSGMACVLGIHWTRSHNFFLYSLNRTLKDKADPEGVWPCAAPIAVSQL
SCSSSYLVLACEDGVLTLWDLAKGFPLGVAALPQGCFCQSIHFLKYFSVHKGQNMYPEGQ
VKSQMKCVVLCTDASLHLVEASGTQGPTISVLVERPVKHLDKTICAVAPVPALPGMVLIF
SKNGSVCLMDVAKREIICAFAPPGAFPLEVPWKPVFAVSPDHPCFLLRGDYSHETASTDD
AGIQYSVFYFNFEACPLLENISKNCTIPQRDLDNMAFPQALPLEKRCERFLQKSYRKLEK
NPEKEEEHWARLQRYSLSLQRENFKK
Sequence length 686
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autistic spectrum disorder with isolated skills Autistic spectrum disorder with isolated skills rs730882204
Unknown
Disease term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder GenCC