AutismKB 2.0

Evidence Details for SCO2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SCO2 ( MGC125823,MGC125825,SCO1L )
Gene Full Name: SCO cytochrome oxidase deficient homolog 2 (yeast)
Band: 22q13.33
Quick LinksEntrez ID:9997; OMIM: 604272; Uniprot ID:SCO2_HUMAN; ENSEMBL ID: ENSG00000130489; HGNC ID: 10604
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCO2|9997|nucleotide
ATGCTGCTGCTGACTCGGAGCCCCACAGCTTGGCACAGGCTCTCTCAGCTCAAGCCTCGGGTCCTCCCTGGGACCCTGGGAGGCCAGGCCCTGCATCTGAGGTCC
TGGCTTTTGTCAAGGCAGGGCCCTGCAGAGACAGGTGGGCAGGGCCAGCCCCAGGGCCCTGGGCTTCGAACCCGGCTGCTGATCACAGGCCTGTTCGGGGCTGGA
CTCGGTGGGGCCTGGCTGGCCCTGAGGGCTGAGAAGGAGAGGCTGCAGCAGCAAAAGCGAACAGAAGCCCTGCGCCAGGCAGCTGTGGGCCAGGGCGACTTCCAC
CTGCTGGATCACAGAGGCCGGGCTCGCTGCAAGGCTGACTTCCGGGGCCAGTGGGTGCTGATGTACTTTGGCTTCACTCACTGCCCTGACATCTGCCCAGACGAG
CTGGAGAAGCTGGTGCAGGTGGTGCGGCAGCTGGAAGCAGAGCCTGGTTTGCCTCCAGTGCAGCCTGTCTTCATCACTGTGGACCCCGAGCGGGACGACGTTGAA
GCCATGGCCCGCTACGTCCAGGACTTCCACCCAAGACTGTTGGGTCTGACCGGCTCCACCAAACAGGTTGCCCAGGCTAGTCACAGTTACCGCGTGTACTACAAT
GCAGGCCCCAAGGATGAGGACCAGGACTACATCGTGGACCACTCCATTGCCATCTACCTGCTCAACCCTGACGGCCTCTTCACGGATTACTACGGCCGGAGCAGA
TCGGCTGAGCAGATCTCAGACAGTGTGCGGCGGCACATGGCGGCTTTCCGCAGTGTCCTGTCTTGA



Show »

>SCO2|9997|protein
MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFH
LLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYN
AGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS


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) 2 (8) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (8)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top