AutismKB 2.0

Evidence Details for COL28A1


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Basic Information Top
Gene Symbol:COL28A1 ( COL28 )
Gene Full Name: collagen, type XXVIII, alpha 1
Band: 7p21.3
Quick LinksEntrez ID:340267; OMIM: 609996; Uniprot ID:COSA1_HUMAN; ENSEMBL ID: ENSG00000215018; HGNC ID: 22442
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COL28A1|340267|nucleotide
ATGTGGAACAGATATTTTGTCTTCTATCTCCTGCTTTTGTCAGCGTTTACGAGTCAAACAGTATCCGGACAAAGAAAGAAAGGACCAAAATCAAATTTGCTTGCA
AGGAAAAGTGATGTCCAGGGCTCCATTTGTTTCATAGATATTGTCTTCATCGTGGACAGCTCTGAAAGTTCTAAAATTGCCCTCTTTGATAAACAGAAAGATTTT
GTGGATAGCTTGAGTGACAAGATTTTCCAATTGACTCCTGGTCGCTCCTTGGAATATGACATCAAACTGGCAGCCCTTCAGTTTAGCAGCTCTGTCCAAATTGAT
CCACCTTTTTCTTCCTGGAAGGACCTGCAGACATTTAAGCAGAAGGTCAAGTCTATGAATTTAATAGGGCAAGGTACCTTCTCTTATTATGCCATTTCCAATGCC
ACTAGGCTACTTAAGAGAGAAGGGCGTAAGGATGGTGTGAAAGTGGTTTTGCTGATGACTGATGGCATCGACCATCCAAAGAATCCAGATGTTCAAAGTATTTCT
GAAGATGCCAGAATTTCAGGAATATCATTTATCACCATTGCACTTTCTACGGTAGTCAATGAAGCCAAACTTCGTTTGATTTCTGGGGATTCATCCAGTGAACCC
ACTTTACTGTTGAGTGATCCAACCCTTGTAGATAAAATTCAAGATCGTCTGGATATCTTATTTGAAAAGAAGTGTGAACGCAAGATTTGTGAATGTGAGAAGGGA
GATCCAGGTGATCCAGGGCCTCCTGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGGCAACGCTCAAAAAGGAGAAGCTGGA
GAAAGAGGTCCAGGGGGAATTCCTGGGTACAAGGGTGACAAGGGTGAACGTGGGGAATGTGGTAAACCAGGGATAAAAGGTGACAAGGGATCCCCAGGGCCATAT
GGACCAAAGGGACCCAGAGGAATTCAGGGAATTACTGGACCTCCAGGAGACCCAGGCCCAAAGGGGTTTCAAGGCAATAAGGGTGAGCCAGGTCCTCCTGGTCCT
TATGGTTCTCCAGGAGCTCCTGGAATTGGACAGCAAGGTATTAAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCT
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>COL28A1|340267|protein
MWNRYFVFYLLLLSAFTSQTVSGQRKKGPKSNLLARKSDVQGSICFIDIVFIVDSSESSKIALFDKQKDFVDSLSDKIFQLTPGRSLEYDIKLAALQFSSSVQID
PPFSSWKDLQTFKQKVKSMNLIGQGTFSYYAISNATRLLKREGRKDGVKVVLLMTDGIDHPKNPDVQSISEDARISGISFITIALSTVVNEAKLRLISGDSSSEP
TLLLSDPTLVDKIQDRLDILFEKKCERKICECEKGDPGDPGPPGTHGNPGIKGERGPKGNPGNAQKGEAGERGPGGIPGYKGDKGERGECGKPGIKGDKGSPGPY
GPKGPRGIQGITGPPGDPGPKGFQGNKGEPGPPGPYGSPGAPGIGQQGIKGERGQEGRPGAPGPIGVGEPGQPGPRGPEGVPGERGLPGEGFPGPKGEKGSEGPT
GPQGLQGLSIKGEKGDIGPVGPQGPMGIPGIGSQGEQGIQGPIGPPGPQGPAGQGLPGSKGEVGQMGPTGPRGPVGIGVQGPKGEPGSIGLPGQPGVPGEDGAAG
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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 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top