AutismKB 2.0

Evidence Details for COL5A2


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Basic Information Top
Gene Symbol:COL5A2 ( MGC105115 )
Gene Full Name: collagen, type V, alpha 2
Band: 2q32.2
Quick LinksEntrez ID:1290; OMIM: 120190; Uniprot ID:CO5A2_HUMAN; ENSEMBL ID: ENSG00000204262; HGNC ID: 2210
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COL5A2|1290|nucleotide
ATGATGGCAAACTGGGCGGAAGCAAGACCTCTCCTCATTCTTATTGTTTTATTAGGGCAATTTGTCTCAATAAAAGCCCAGGAAGAAGACGAGGATGAAGGATAT
GGTGAAGAAATAGCCTGCACTCAGAATGGCCAGATGTACTTAAACAGGGACATTTGGAAACCTGCCCCTTGTCAGATCTGTGTCTGTGACAATGGAGCCATTCTC
TGTGACAAGATAGAATGCCAGGATGTGCTGGACTGTGCCGACCCTGTAACGCCCCCTGGGGAATGCTGTCCTGTCTGTTCACAAACACCTGGAGGTGGCAATACA
AATTTTGGTAGAGGAAGAAAGGGACAAAAGGGAGAACCAGGATTAGTGCCTGTTGTAACAGGCATACGTGGTCGTCCAGGACCGGCAGGACCTCCAGGATCACAG
GGACCAAGAGGAGAGCGAGGGCCAAAAGGAAGACCTGGCCCTCGTGGACCTCAGGGAATTGATGGAGAACCAGGTGTTCCTGGTCAACCTGGTGCTCCAGGACCT
CCTGGACATCCGTCCCACCCAGGACCCGATGGCTTGAGCAGGCCGTTTTCAGCTCAAATGGCTGGGTTGGATGAAAAATCTGGACTTGGGAGTCAAGTAGGACTA
ATGCCTGGCTCTGTGGGTCCTGTTGGCCCAAGGGGACCACAGGGTTTACAAGGACAGCAAGGTGGTGCAGGACCTACAGGACCTCCTGGTGAACCTGGTGATCCT
GGACCAATGGGTCCGATTGGTTCACGTGGACCAGAGGGCCCTCCTGGTAAACCTGGGGAAGATGGTGAACCTGGCAGAAATGGAAATCCTGGTGAAGTGGGATTT
GCAGGATCTCCGGGAGCTCGTGGATTTCCTGGGGCTCCTGGTCTTCCAGGTCTGAAGGGTCACCGAGGACACAAAGGTCTTGAAGGCCCTAAAGGTGAAGTTGGA
GCACCTGGTTCCAAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAG
GGTGCTCCTGGACAACGAGGTGCACATGGTATGCCTGGAAAACCTGGACCAATGGGTCCTCTTGGGATACCAGGCTCTTCTGGTTTTCCAGGAAATCCTGGAATG
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>COL5A2|1290|protein
MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNT
NFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGL
MPGSVGPVGPRGPQGLQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVG
APGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHGMPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAGPKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPG
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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 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top