AutismKB 2.0

Evidence Details for COMP


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Basic Information Top
Gene Symbol:COMP ( EDM1,EPD1,MED,MGC131819,MGC149768,PSACH,THBS5 )
Gene Full Name: cartilage oligomeric matrix protein
Band: 19p13.11
Quick LinksEntrez ID:1311; OMIM: 600310; Uniprot ID:COMP_HUMAN; ENSEMBL ID: ENSG00000105664; HGNC ID: 2227
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COMP|1311|nucleotide
ATGGTCCCCGACACCGCCTGCGTTCTTCTGCTCACCCTGGCTGCCCTCGGCGCGTCCGGACAGGGCCAGAGCCCGTTGGGCTCAGACCTGGGCCCGCAGATGCTT
CGGGAACTGCAGGAAACCAACGCGGCGCTGCAGGACGTGCGGGAGCTGCTGCGGCAGCAGGTCAGGGAGATCACGTTCCTGAAAAACACGGTGATGGAGTGTGAC
GCGTGCGGGATGCAGCAGTCAGTACGCACCGGCCTACCCAGCGTGCGGCCCCTGCTCCACTGCGCGCCCGGCTTCTGCTTCCCCGGCGTGGCCTGCATCCAGACG
GAGAGCGGCGCGCGCTGCGGCCCCTGCCCCGCGGGCTTCACGGGCAACGGCTCGCACTGCACCGACGTCAACGAGTGCAACGCCCACCCCTGCTTCCCCCGAGTC
CGCTGTATCAACACCAGCCCGGGGTTCCGCTGCGAGGCTTGCCCGCCGGGGTACAGCGGCCCCACCCACCAGGGCGTGGGGCTGGCTTTCGCCAAGGCCAACAAG
CAGGTTTGCACGGACATCAACGAGTGTGAGACCGGGCAACATAACTGCGTCCCCAACTCCGTGTGCATCAACACCCGGGGCTCCTTCCAGTGCGGCCCGTGCCAG
CCCGGCTTCGTGGGCGACCAGGCGTCCGGCTGCCAGCGGCGCGCACAGCGCTTCTGCCCCGACGGCTCGCCCAGCGAGTGCCACGAGCATGCAGACTGCGTCCTA
GAGCGCGATGGCTCGCGGTCGTGCGTGTGTGCCGTTGGCTGGGCCGGCAACGGGATCCTCTGTGGTCGCGACACTGACCTAGACGGCTTCCCGGACGAGAAGCTG
CGCTGCCCGGAGCGCCAGTGCCGTAAGGACAACTGCGTGACTGTGCCCAACTCAGGGCAGGAGGATGTGGACCGCGATGGCATCGGAGACGCCTGCGATCCGGAT
GCCGACGGGGACGGGGTCCCCAATGAAAAGGACAACTGCCCGCTGGTGCGGAACCCAGACCAGCGCAACACGGACGAGGACAAGTGGGGCGATGCGTGCGACAAC
TGCCGGTCCCAGAAGAACGACGACCAAAAGGACACAGACCAGGACGGCCGGGGCGATGCGTGCGACGACGACATCGACGGCGACCGGATCCGCAACCAGGCCGAC
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>COMP|1311|protein
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVACIQT
ESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSGPTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQ
PGFVGDQASGCQRRAQRFCPDGSPSECHEHADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPD
ADGDGVPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDGDGIGDACDNCPQKSNPDQAD
VDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAE
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top