AutismKB 2.0

Evidence Details for CISD2


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Basic Information Top
Gene Symbol:CISD2 ( ERIS,Miner1,WFS2,ZCD2 )
Gene Full Name: CDGSH iron sulfur domain 2
Band: 4q24
Quick LinksEntrez ID:493856; OMIM: 604928,611507; Uniprot ID:CISD2_HUMAN; ENSEMBL ID: ENSG00000145354; HGNC ID: 24212
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CISD2|493856|nucleotide
ATGGTGCTGGAGAGCGTGGCCCGTATCGTGAAGGTGCAGCTCCCTGCATATCTGAAGCGGCTCCCAGTCCCTGAAAGCATTACCGGGTTCGCTAGGCTCACAGTT
TCAGAATGGCTTCGGTTATTGCCTTTCCTTGGTGTACTCGCACTTCTTGGCTACCTTGCAGTTCGTCCATTCCTCCCGAAGAAGAAACAACAGAAGGATAGCTTG
ATTAATCTTAAAATACAAAAGGAAAATCCGAAAGTAGTGAATGAAATAAACATTGAAGATTTGTGTCTTACTAAAGCAGCTTATTGTAGGTGTTGGCGTTCTAAA
ACGTTTCCTGCCTGCGATGGTTCACATAATAAACACAATGAATTGACAGGAGATAATGTGGGTCCACTAATACTGAAGAAGAAAGAAGTATAA







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>CISD2|493856|protein
MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFLPKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSK
TFPACDGSHNKHNELTGDNVGPLILKKKEV



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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Ylisaukko-oja, 2006 USA, Finland microsatellite-based genomic screenASD 314 - 314 - - - -
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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