AutismKB 2.0

Evidence Details for CASP2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CASP2 ( CASP-2,ICH-1L,ICH-1L/1S,ICH1,NEDD2 )
Gene Full Name: caspase 2, apoptosis-related cysteine peptidase
Band: 7q34
Quick LinksEntrez ID:835; OMIM: 600639; Uniprot ID:CASP2_HUMAN; ENSEMBL ID: ENSG00000106144; HGNC ID: 1503
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CASP2|835|nucleotide
ATGGCGGCGCCGAGCGCGGGGTCTTGGTCCACCTTCCAGCACAAGGAGCTGATGGCCGCTGACAGGGGACGCAGGATATTGGGAGTGTGTGGCATGCATCCTCAT
CATCAGGAAACTCTAAAAAAGAACCGAGTGGTGCTAGCCAAACAGCTGTTGTTGAGCGAATTGTTAGAACATCTTCTGGAGAAGGACATCATCACCTTGGAAATG
AGGGAGCTCATCCAGGCCAAAGTGGGCAGTTTCAGCCAGAATGTGGAACTCCTCAACTTGCTGCCTAAGAGGGGTCCCCAAGCTTTTGATGCCTTCTGTGAAGCA
CTGAGGGAGACCAAGCAAGGCCACCTGGAGGATATGTTGCTCACCACCCTTTCTGGGCTTCAGCATGTACTCCCACCGTTGAGCTGTGACTACGACTTGAGTCTC
CCTTTTCCGGTGTGTGAGTCCTGTCCCCTTTACAAGAAGCTCCGCCTGTCGACAGATACTGTGGAACACTCCCTAGACAATAAAGATGGTCCTGTCTGCCTTCAG
GTGAAGCCTTGCACTCCTGAATTTTATCAAACACACTTCCAGCTGGCATATAGGTTGCAGTCTCGGCCTCGTGGCCTAGCACTGGTGTTGAGCAATGTGCACTTC
ACTGGAGAGAAAGAACTGGAATTTCGCTCTGGAGGGGATGTGGACCACAGTACTCTAGTCACCCTCTTCAAGCTTTTGGGCTATGACGTCCATGTTCTATGTGAC
CAGACTGCACAGGAAATGCAAGAGAAACTGCAGAATTTTGCACAGTTACCTGCACACCGAGTCACGGACTCCTGCATCGTGGCACTCCTCTCGCATGGTGTGGAG
GGCGCCATCTATGGTGTGGATGGGAAACTGCTCCAGCTCCAAGAGGTTTTTCAGCTCTTTGACAACGCCAACTGCCCAAGCCTACAGAACAAACCAAAAATGTTC
TTCATCCAGGCCTGCCGTGGAGATGAGACTGATCGTGGGGTTGACCAACAAGATGGAAAGAACCACGCAGGATCCCCTGGGTGCGAGGAGAGTGATGCCGGTAAA
GAAAAGTTGCCGAAGATGAGACTGCCCACGCGCTCAGACATGATATGCGGCTATGCCTGCCTCAAAGGGACTGCCGCCATGCGGAACACCAAACGAGGTTCCTGG
Show »

>CASP2|835|protein
MAAPSAGSWSTFQHKELMAADRGRRILGVCGMHPHHQETLKKNRVVLAKQLLLSELLEHLLEKDIITLEMRELIQAKVGSFSQNVELLNLLPKRGPQAFDAFCEA
LRETKQGHLEDMLLTTLSGLQHVLPPLSCDYDLSLPFPVCESCPLYKKLRLSTDTVEHSLDNKDGPVCLQVKPCTPEFYQTHFQLAYRLQSRPRGLALVLSNVHF
TGEKELEFRSGGDVDHSTLVTLFKLLGYDVHVLCDQTAQEMQEKLQNFAQLPAHRVTDSCIVALLSHGVEGAIYGVDGKLLQLQEVFQLFDNANCPSLQNKPKMF
FIQACRGDETDRGVDQQDGKNHAGSPGCEESDAGKEKLPKMRLPTRSDMICGYACLKGTAAMRNTKRGSWYIEALAQVFSERACDMHVADMLVKVNALIKDREGY
APGTEFHRCKEMSEYCSTLCRHLYLFPGHPPT
Show »

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 (1) 1 (1) 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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top