AutismKB 2.0

Evidence Details for COL5A3


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Basic Information Top
Gene Symbol:COL5A3 ( - )
Gene Full Name: collagen, type V, alpha 3
Band: 19p13.2
Quick LinksEntrez ID:50509; OMIM: 120216; Uniprot ID:CO5A3_HUMAN; ENSEMBL ID: ENSG00000080573; HGNC ID: 14864
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COL5A3|50509|nucleotide
ATGGGGAACCGCCGGGACCTGGGCCAGCCGCGGGCCGGTCTCTGCCTGCTCCTGGCCGCGCTGCAGCTTCTGCCGGGGACGCAGGCCGATCCTGTGGATGTCCTG
AAGGCCCTGGGTGTGCAGGGAGGCCAGGCTGGGGTCCCCGAGGGGCCTGGCTTCTGTCCCCAGAGGACTCCAGAGGGTGACCGGGCATTCAGAATTGGCCAGGCC
AGCACGCTCGGCATCCCCACGTGGGAACTCTTTCCAGAAGGCCACTTTCCTGAGAACTTCTCCTTGCTGATCACCTTGCGGGGACAGCCAGCCAATCAGTCTGTC
CTGCTGTCCATTTATGATGAAAGGGGTGCCCGGCAGTTGGGCCTGGCACTGGGGCCAGCGCTGGGTCTCCTAGGTGACCCCTTCCGCCCCCTCCCCCAGCAGGTC
AACCTCACAGATGGCAGGTGGCACCGTGTGGCCGTCAGCATAGATGGTGAGATGGTGACCCTGGTAGCTGACTGTGAAGCTCAGCCCCCTGTTTTGGGCCATGGC
CCCCGCTTCATCAGCATAGCTGGACTCACTGTGCTGGGGACCCAGGACCTTGGGGAAAAGACTTTCGAGGGAGACATTCAGGAGCTGCTGATAAGCCCAGATCCT
CAGGCTGCCTTCCAGGCTTGTGAGCGGTACCTCCCCGACTGTGACAACCTGGCACCGGCAGCCACAGTGGCTCCCCAGGGTGAACCAGAAACCCCTCGTCCTCGG
CGGAAGGGGAAGGGAAAAGGGAGGAAGAAAGGGCGAGGTCGCAAGGGGAAGGGCAGGAAAAAGAACAAGGAAATTTGGACCTCAAGTCCACCTCCTGACTCCGCA
GAGAACCAGACCTCCACTGACATCCCCAAGACAGAGACTCCAGCTCCAAATCTGCCTCCGACCCCCACGCCTTTGGTCGTCACCTCCACTGTGACTACTGGACTC
AATGCCACGATCCTAGAGAGGAGCTTGGACCCTGACAGTGGAACCGAGCTGGGGACCCTGGAGACCAAGGCAGCCAGGGAGGATGAAGAAGGAGATGATTCCACC
ATGGGCCCTGACTTCCGGGCAGCAGAATATCCATCTCGGACTCAGTTCCAGATCTTTCCTGGTGCTGGAGAGAAAGGAGCAAAAGGAGAGCCCGCAGTGATTGAA
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>COL5A3|50509|protein
MGNRRDLGQPRAGLCLLLAALQLLPGTQADPVDVLKALGVQGGQAGVPEGPGFCPQRTPEGDRAFRIGQASTLGIPTWELFPEGHFPENFSLLITLRGQPANQSV
LLSIYDERGARQLGLALGPALGLLGDPFRPLPQQVNLTDGRWHRVAVSIDGEMVTLVADCEAQPPVLGHGPRFISIAGLTVLGTQDLGEKTFEGDIQELLISPDP
QAAFQACERYLPDCDNLAPAATVAPQGEPETPRPRRKGKGKGRKKGRGRKGKGRKKNKEIWTSSPPPDSAENQTSTDIPKTETPAPNLPPTPTPLVVTSTVTTGL
NATILERSLDPDSGTELGTLETKAAREDEEGDDSTMGPDFRAAEYPSRTQFQIFPGAGEKGAKGEPAVIEKGQQFEGPPGAPGPQGVVGPSGPPGPPGFPGDPGP
PGPAGLPGIPGIDGIRGPPGTVIMMPFQFAGGSFKGPPVSFQQAQAQAVLQQTQLSMKGPPGPVGLTGRPGPVGLPGHPGLKGEEGAEGPQGPRGLQGPHGPPGR
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top