AutismKB 2.0

Evidence Details for CARHSP1


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Basic Information Top
Gene Symbol:CARHSP1 ( CRHSP-24,CSDC1,MGC111446 )
Gene Full Name: calcium regulated heat stable protein 1, 24kDa
Band: 16p13.2
Quick LinksEntrez ID:23589; OMIM: NA; Uniprot ID:CHSP1_HUMAN; ENSEMBL ID: ENSG00000153048; HGNC ID: 17150
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CARHSP1|23589|nucleotide
ATGTCATCTGAGCCTCCCCCACCACCACAGCCCCCCACCCATCAAGCTTCAGTCGGGCTGCTGGACACCCCTCGGAGCCGTGAGCGCTCACCATCCCCTCTGCGG
GGCAACGTGGTCCCAAGCCCACTGCCCACTCGCCGGACGAGGACCTTCTCGGCGACGGTGCGGGCTTCACAGGGCCCCGTCTACAAAGGAGTCTGCAAATGCTTC
TGCCGGTCCAAGGGCCATGGCTTCATTACCCCAGCTGATGGCGGCCCCGACATCTTCCTGCACATCTCTGATGTGGAAGGGGAGTATGTCCCAGTGGAAGGCGAC
GAGGTCACCTATAAAATGTGCTCCATCCCACCCAAGAATGAGAAGCTGCAGGCCGTGGAGGTCGTCATCACTCACCTGGCACCAGGCACCAAGCATGAGACCTGG
TCTGGACATGTCATCAGCTCCTAG






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>CARHSP1|23589|protein
MSSEPPPPPQPPTHQASVGLLDTPRSRERSPSPLRGNVVPSPLPTRRTRTFSATVRASQGPVYKGVCKCFCRSKGHGFITPADGGPDIFLHISDVEGEYVPVEGD
EVTYKMCSIPPKNEKLQAVEVVITHLAPGTKHETWSGHVISS



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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 (3) 2 (4) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 6 (9)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top