AutismKB 2.0

Evidence Details for CSMD1


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Basic Information Top
Gene Symbol:CSMD1 ( KIAA1890 )
Gene Full Name: CUB and Sushi multiple domains 1
Band: 8p23.2
Quick LinksEntrez ID:64478; OMIM: 608397; Uniprot ID:CSMD1_HUMAN; ENSEMBL ID: ENSG00000183117; HGNC ID: 14026
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CSMD1|64478|nucleotide
ATGACTGCGTGGAGGAGATTCCAGTCGCTGCTCCTGCTTCTCGGGCTGCTGGTGCTGTGCGCGAGGCTCCTCACTGCAGCGAAGGGTCAGAACTGTGGAGGCTTA
GTCCAGGGTCCCAATGGCACTATTGAGAGCCCAGGGTTTCCTCACGGGTATCCGAACTATGCCAACTGCACCTGGATCATCATCACGGGCGAGCGCAATAGGATA
CAGTTGTCCTTCCATACCTTTGCTCTTGAAGAAGATTTTGATATTTTATCAGTTTACGATGGACAGCCTCAACAAGGGAATTTAAAAGTGAGATTATCGGGATTT
CAGCTGCCCTCCTCTATAGTGAGTACAGGATCTATCCTCACTCTGTGGTTCACGACAGACTTCGCTGTGAGTGCCCAAGGTTTCAAAGCATTATATGAAGTTTTA
CCTAGCCACACTTGTGGAAATCCTGGAGAAATCCTGAAAGGAGTTCTGCATGGAACGAGATTCAACATAGGAGACAAAATCCGGTACAGCTGCCTCCCTGGCTAC
ATCTTGGAAGGCCACGCCATCCTGACCTGCATCGTCAGCCCAGGAAATGGTGCATCGTGGGACTTCCCAGCTCCCTTTTGCAGAGCTGAGGGAGCCTGCGGAGGA
ACCTTACGCGGGACCAGCAGCTCCATCTCCAGCCCGCACTTCCCTTCAGAGTACGAGAACAACGCGGACTGCACCTGGACCATTCTGGCTGAGCCCGGGGACACC
ATTGCGCTGGTCTTCACTGACTTTCAGCTAGAAGAAGGATATGATTTCTTAGAGATCAGTGGCACGGAAGCTCCATCCATATGGCTAACTGGCATGAACCTCCCC
TCTCCAGTTATCAGTAGCAAGAATTGGCTACGACTCCATTTCACCTCTGACAGCAACCACCGACGCAAAGGATTTAACGCTCAGTTCCAAGTGAAAAAGGCGATT
GAGTTGAAGTCAAGAGGAGTCAAGATGCTGCCCAGCAAGGATGGAAGCCATAAAAACTCTGTCTTGAGCCAAGGAGGTGTTGCATTGGTCTCTGACATGTGTCCA
GATCCTGGGATTCCAGAAAATGGTAGAAGAGCAGGTTCCGACTTCAGGGTTGGTGCAAATGTACAGTTTTCATGTGAGGACAATTACGTGCTCCAGGGATCTAAA
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>CSMD1|64478|protein
MTAWRRFQSLLLLLGLLVLCARLLTAAKGQNCGGLVQGPNGTIESPGFPHGYPNYANCTWIIITGERNRIQLSFHTFALEEDFDILSVYDGQPQQGNLKVRLSGF
QLPSSIVSTGSILTLWFTTDFAVSAQGFKALYEVLPSHTCGNPGEILKGVLHGTRFNIGDKIRYSCLPGYILEGHAILTCIVSPGNGASWDFPAPFCRAEGACGG
TLRGTSSSISSPHFPSEYENNADCTWTILAEPGDTIALVFTDFQLEEGYDFLEISGTEAPSIWLTGMNLPSPVISSKNWLRLHFTSDSNHRRKGFNAQFQVKKAI
ELKSRGVKMLPSKDGSHKNSVLSQGGVALVSDMCPDPGIPENGRRAGSDFRVGANVQFSCEDNYVLQGSKSITCQRVTETLAAWSDHRPICRARTCGSNLRGPSG
VITSPNYPVQYEDNAHCVWVITTTDPDKVIKLAFEEFELERGYDTLTVGDAGKVGDTRSVLYVLTGSSVPDLIVSMSNQMWLHLQSDDSIGSPGFKAVYQEIEKG
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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 1 (2) 1 (8) 0 (0) 0 (0) 0 (0) 0 (5) 0 (0) 1 (2) 0 (0) 14 (17)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
MIXED/OTHERS
Liu X, 2016_2 replication TaqMan 1409
(-)		ASD -
-		 - 184
(-)		 -
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Brett M, 2014 - Illumina HiSeq2000--autism - - - 8 Sanger sequencing
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


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