MosaicBase

Exon or Intron	NA
Position in protein	NA
Amino acid changes in protein	NA > NA
Position in cDNA	NA
Changes in cDNA	NA > NA
mRNA accession	NA
mRNA length	NA
Reference length	243199373

MAF in gnomAD genome (version 2.0.1)	0
EIGEN score	0.2076
CADD Raw score (version 1.3)	0.190823 (Deleterious)
FATHMM raw prediction score	0.18625 (Tolerated)
Deleterious probability by DeFine	0.6036 (Deleterious)

Entrez Gene ID	57539 (NCBI Gene)
Official Gene Symbol	WDR35 (GeneCards)
Number of variants in WDR35 in this database	2 (view all the variants)
Full name	WD repeat domain 35
Band	2p24.1
Other IDs	Vega: OTTHUMG00000090737 OMIM: 613602 HGNC: HGNC:29250 Ensembl: ENSG00000118965
Other names	CED2, IFTA1, SRTD7, IFT121
Summary	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]

Pubmed ID	29217584
Title	Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal	Science
Publication date	2018.02
Disease	Cockayne syndrome Xeroderma Pigmentosum
Number of cases	Male cases: 3; Female cases: 6; cases of unknown sex: 15;