AutismKB 2.0

Evidence Details for CYB561D1


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Basic Information Top
Gene Symbol:CYB561D1 ( FLJ39035,FLJ44753,MGC138204 )
Gene Full Name: cytochrome b-561 domain containing 1
Band: 1p13.3
Quick LinksEntrez ID:284613; OMIM: NA; Uniprot ID:C56D1_HUMAN; ENSEMBL ID: ENSG00000174151; HGNC ID: 26804
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYB561D1|284613|nucleotide
ATGCAGCCCCTGGAGGTAGGTCTGGTTCCCGCTCCAGCTGGGGAGCCGAGACTGACCCGCTGGCTGCGGAGAGGCAGTGGGATCTTGGCGCACCTGGTAGCTTTG
GGCTTCACCATCTTTCTGACAGCGCTGTCCCGGCCAGGAACCAAAACAGGTCCCCTGATGGAGGATAGAAGTGAAGGAGGCCGGGCGCGGTGGGTCATGCCTGAA
ATCCCAGCACTTTGGGAGGCCGACGCGGGTGGATCACTTGAGTTCTGCCTCTGCATGGCTGAAGCCATCCTACTCTTCTCACCTGAACACTCCCTGTTCTTCTTC
TGCTCCCGAAAAGCACGGATCCGGCTCCACTGGGCAGGGCAGACCCTAGCCATCCTCTGTGCAGCTCTGGGCCTGGGCTTCATCATCTCCAGCAGGACCCGCAGT
GAGCTGCCTCATCTGGTGTCCTGGCACAGCTGGGTGGGAGCCCTGACACTGCTGGCCACTGCTGTCCAGGCACTGTGTGGGCTCTGCCTCCTTTGTCCCCGGGCA
GCCAGGGTCTCAAGGGTGGCTCGCCTCAAGCTCTACCATCTGACATGTGGACTGGTGGTCTACCTGATGGCTACAGTAACGGTGCTTCTGGGCATGTACTCAGTA
TGGTTCCAGGCCCAGATCAAAGGTGCGGCCTGGTACCTGTGCCTGGCACTGCCCGTCTATCCAGCCCTGGTGATCATGCACCAGATTTCCAGATCCTACTTGCCG
AGGAAGAAAATGGAAATGTGA



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>CYB561D1|284613|protein
MQPLEVGLVPAPAGEPRLTRWLRRGSGILAHLVALGFTIFLTALSRPGTKTGPLMEDRSEGGRARWVMPEIPALWEADAGGSLEFCLCMAEAILLFSPEHSLFFF
CSRKARIRLHWAGQTLAILCAALGLGFIISSRTRSELPHLVSWHSWVGALTLLATAVQALCGLCLLCPRAARVSRVARLKLYHLTCGLVVYLMATVTVLLGMYSV
WFQAQIKGAAWYLCLALPVYPALVIMHQISRSYLPRKKMEM


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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018