AutismKB 2.0

Evidence Details for CAND2


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Basic Information Top
Gene Symbol:CAND2 ( KIAA0667,TIP120B,Tp120b )
Gene Full Name: cullin-associated and neddylation-dissociated 2 (putative)
Band: 3p25.2
Quick LinksEntrez ID:23066; OMIM: 610403; Uniprot ID:CAND2_HUMAN; ENSEMBL ID: ENSG00000144712; HGNC ID: 30689
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAND2|23066|nucleotide
ATGAGCACCGCCGCCTTCCACATCTCCAGCCTCCTGGAGAAGATGACGTCCAGCGACAAGGACTTCAGGTTCATGGCCACCAGCGACCTGATGTCGGAGTTGCAG
AAGGACTCCATCCAGCTGGACGAGGACAGCGAGCGCAAGGTGGTGAAGATGCTGCTCCGGCTCCTGGAGGACAAGAACGGTGAGGTGCAGAACCTGGCTGTCAAG
TGCCTGGGTCCTCTGGTGGTCAAAGTGAAGGAGTACCAGGTGGAGACCATTGTGGACACCCTGTGCACCAACATGCGGTCAGACAAGGAGCAGCTGCGAGACATT
GCCGGCATTGGCCTCAAGACCGTCCTCTCGGAGCTCCCTCCTGCAGCCACAGGCTCCGGGCTGGCCACCAACGTGTGCCGGAAGATCACAGGCCAGCTCACCAGT
GCCATTGCCCAGCAGGAGGATGTGGCTGTGCAGCTGGAAGCCCTGGACATCCTCTCTGACATGCTGAGCAGGCTGGGTGTCCCGCTGGGCGCCTTCCACGCCAGC
CTCCTGCACTGTCTGCTGCCACAGCTGAGCAGCCCGCGCCTGGCGGTGCGCAAGCGGGCGGTCGGAGCGCTTGGCCACCTGGCGGCCGCCTGCAGCACCGACCTC
TTCGTCGAGCTCGCTGACCACCTACTGGACCGGCTGCCCGGCCCGCGGGTGCCCACCAGCCCGACTGCCATCCGCACCCTGATCCAATGTTTGGGCAGCGTCGGC
CGCCAGGCCGGCCACCGCCTCGGGGCTCACCTGGACCGCCTGGTGCCCCTGGTGGAGGATTTCTGCAACCTGGATGATGATGAGCTCCGGGAGTCCTGCCTCCAG
GCTTTTGAGGCCTTCTTGAGGAAGTGCCCCAAGGAAATGGGTCCTCACGTGCCCAACGTGACCAGCCTCTGCCTCCAATACATAAAACACGACCCCAACTACAAC
TACGACAGTGATGAGGATGAGGAGCAGATGGAGACAGAGGATAGTGAATTCAGTGAGCAAGAGAGTGAAGACGAGTACAGCGATGACGATGACATGAGCTGGAAG
GTGCGCCGGGCAGCTGCCAAGTGCATCGCAGCCTTGATCAGCTCGCGGCCTGACCTGCTGCCCGATTTCCACTGCACCCTGGCACCTGTGCTCATCCGCCGCTTC
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>CAND2|23066|protein
MSTAAFHISSLLEKMTSSDKDFRFMATSDLMSELQKDSIQLDEDSERKVVKMLLRLLEDKNGEVQNLAVKCLGPLVVKVKEYQVETIVDTLCTNMRSDKEQLRDI
AGIGLKTVLSELPPAATGSGLATNVCRKITGQLTSAIAQQEDVAVQLEALDILSDMLSRLGVPLGAFHASLLHCLLPQLSSPRLAVRKRAVGALGHLAAACSTDL
FVELADHLLDRLPGPRVPTSPTAIRTLIQCLGSVGRQAGHRLGAHLDRLVPLVEDFCNLDDDELRESCLQAFEAFLRKCPKEMGPHVPNVTSLCLQYIKHDPNYN
YDSDEDEEQMETEDSEFSEQESEDEYSDDDDMSWKVRRAAAKCIAALISSRPDLLPDFHCTLAPVLIRRFKEREENVKADVFTAYIVLLRQTQPPKGWLEAMEEP
TQTGSNLHMLRGQVPLVVKALQRQLKDRSVRARQGCFSLLTELAGVLPGSLAEHMPVLVSGIIFSLADRSSSSTIRMDALAFLQGLLGTEPAEAFHPHLPILLPP
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
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