AutismKB 2.0

Evidence Details for COL2A1


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Basic Information Top
Gene Symbol:COL2A1 ( ANFH,AOM,COL11A3,MGC131516,SEDC )
Gene Full Name: collagen, type II, alpha 1
Band: 12q13.11
Quick LinksEntrez ID:1280; OMIM: 120140; Uniprot ID:CO2A1_HUMAN; ENSEMBL ID: ENSG00000139219; HGNC ID: 2200
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COL2A1|1280|nucleotide
ATGATTCGCCTCGGGGCTCCCCAGACGCTGGTGCTGCTGACGCTGCTCGTCGCCGCTGTCCTTCGGTGTCAGGGCCAGGATGTCCAGGAGGCTGGCAGCTGTGTG
CAGGATGGGCAGAGGTATAATGATAAGGATGTGTGGAAGCCGGAGCCCTGCCGGATCTGTGTCTGTGACACTGGGACTGTCCTCTGCGACGACATAATCTGTGAA
GACGTGAAAGACTGCCTCAGCCCTGAGATCCCCTTCGGAGAGTGCTGCCCCATCTGCCCAACTGACCTCGCCACTGCCAGTGGGCAACCAGGACCAAAGGGACAG
AAAGGAGAACCTGGAGACATCAAGGATATTGTAGGACCCAAAGGACCTCCTGGGCCTCAGGGACCTGCAGGGGAACAAGGACCCAGAGGGGATCGTGGTGACAAA
GGTGAAAAAGGTGCCCCTGGACCTCGTGGCAGAGATGGAGAACCTGGGACCCCTGGAAATCCTGGCCCCCCTGGTCCTCCCGGCCCCCCTGGTCCCCCTGGTCTT
GGTGGAAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGGCCCCATGGGACCTCGAGGA
CCTCCAGGCCCTGCAGGTGCTCCTGGGCCTCAAGGATTTCAAGGCAATCCTGGTGAACCTGGTGAACCTGGTGTCTCTGGTCCCATGGGTCCCCGTGGTCCTCCT
GGTCCCCCTGGAAAGCCTGGTGATGATGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGGTGCTCGTGGTTTCCCAGGAACC
CCAGGCCTTCCTGGTGTCAAAGGTCACAGAGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGGTGAGAGTGGTTCCCCGGGT
GAGAACGGATCTCCGGGCCCAATGGGTCCTCGTGGCCTGCCTGGTGAAAGAGGACGGACTGGCCCTGCTGGCGCTGCGGGTGCCCGAGGCAACGATGGTCAGCCA
GGCCCCGCAGGGCCTCCGGGTCCTGTCGGTCCTGCTGGTGGTCCTGGCTTCCCTGGTGCTCCTGGAGCCAAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCT
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>COL2A1|1280|protein
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQ
KGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRG
PPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPG
ENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAG
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top