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 Links	Entrez ID:64478; OMIM: 608397; Uniprot ID:CSMD1_HUMAN; ENSEMBL ID: ENSG00000183117; HGNC ID: 14026
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>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

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	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
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
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
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
MIXED/OTHERS
Liu X, 2016_2	replication	TaqMan	1409 (-)			ASD	- -	-	184 (-)	- -

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Wassink, 2001	USA	Chromosomal analysis of G-band			autism	-	-	-	-	278	-	278
Yu, 2002	USA	STS mapping			PDD	105	-	105	-	-	668	668
Papanikolaou, 2006	-	FISH			autism	-	-	-	-	1	-	1
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	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

AutismKB 2.0

Evidence Details for CSMD1