AutismKB 2.0

Evidence Details for COL24A1


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Basic Information Top
Gene Symbol:COL24A1 ( MGC142214 )
Gene Full Name: collagen, type XXIV, alpha 1
Band: 1p22.3
Quick LinksEntrez ID:255631; OMIM: 610025; Uniprot ID:COOA1_HUMAN; ENSEMBL ID: ENSG00000171502; HGNC ID: 20821
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COL24A1|255631|nucleotide
ATGCATTTAAGAGCCCACAGAACAAGGCGTGGAAAAGTCTCCCCCACGGCAAAAACGAAATCACTTCTTCATTTTATTGTACTATGTGTGGCTGGGGTGGTTGTT
CATGCACAAGAACAAGGCATAGATATTCTTCATCAACTAGGCCTTGGAGGCAAAGACGTAAGACACTCATCACCAGCGACTGCTGTACCATCAGCATCTACACCG
TTACCTCAGGGGGTCCATTTAACAGAATCAGGAGTCATTTTTAAAAATGATGCTTATATCGAGACACCTTTCGTGAAAATTTTACCAGTCAACTTGGGGCAGCCG
TTTACAATATTAACTGGGTTACAGTCACATCGGGTGAACAATGCATTTCTCTTCAGCATTAGAAATAAAAATAGACTGCAATTAGGAGTACAATTACTACCTAAA
AAATTAGTAGTACACATTAGAGGAAAGCAGCCTGCAGTTTTCAACTACAGTGTTCATGATGAGCAATGGCACTCATTTGCCATTACTATTAGAAACCAAAGTGTC
TCAATGTTTGTTGAGTGTGGAAAGAAATATTTTAGCACAGAGACTATTCCAGAAGTTCAGACCTTTGATTCTAATAGTGTGTTTACTTTAGGAAGTATGAATAAT
AATTCTATCCATTTTGAAGGAATAGTATGTCAGTTAGATATTATTCCTTCTGCAGAAGCATCTGCAGACTACTGCAGATATGTGAAACAGCAGTGTCGCCAAGCA
GACAAATACCAACCTGAAACAAGCATTCCTTGTACAACTCTCATACCAACAAAGATACCGGAACACTCTCCCCCGCCCAAACTATTTGCTGAAAAAGTACTGTCA
GAGGATACATTTACTGAAGGCAAAAGCATTCCAAATATCATAAAAAATGATTCTGAAACCGTGTATAAAAGACAAGAACACCAGATATCAAGATCTCAGTTATCT
TCTCTTCAGTCAGGAAATGTCTCTGCTGTGGATCTCACAAACCATGGGATTCAGGCCAAAGAAATGATCACTGAGGAAGATACTCAGACAAATTTCAGCCTGTCA
GTGACCACTCATCGCATCAGTGAGGCAAAAATGAATACCAAAGAGAAATTTAGCTCTCTCCTAAACATGTCTGACAATATCACACAACATGATGATAGAGTAACT
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>COL24A1|255631|protein
MHLRAHRTRRGKVSPTAKTKSLLHFIVLCVAGVVVHAQEQGIDILHQLGLGGKDVRHSSPATAVPSASTPLPQGVHLTESGVIFKNDAYIETPFVKILPVNLGQP
FTILTGLQSHRVNNAFLFSIRNKNRLQLGVQLLPKKLVVHIRGKQPAVFNYSVHDEQWHSFAITIRNQSVSMFVECGKKYFSTETIPEVQTFDSNSVFTLGSMNN
NSIHFEGIVCQLDIIPSAEASADYCRYVKQQCRQADKYQPETSIPCTTLIPTKIPEHSPPPKLFAEKVLSEDTFTEGKSIPNIIKNDSETVYKRQEHQISRSQLS
SLQSGNVSAVDLTNHGIQAKEMITEEDTQTNFSLSVTTHRISEAKMNTKEKFSSLLNMSDNITQHDDRVTGLSLFKKMPSILPQIKQDTITNLKKAITANLHTNE
LMEMQPILNTSLHRVTNEPSVDNHLDLRKEGEFYPDATYPIENSYETELYDYYYYEDLNTMLEMEYLRGPKGDTGPPGPPGPAGIPGPSGKRGPRGIPGPHGNPG
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top