AutismKB 2.0

Evidence Details for CLTC


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Basic Information Top
Gene Symbol:CLTC ( CHC,CHC17,CLH-17,CLTCL2,Hc,KIAA0034 )
Gene Full Name: clathrin, heavy chain (Hc)
Band: 17q23.1
Quick LinksEntrez ID:1213; OMIM: 118955; Uniprot ID:CLH1_HUMAN; ENSEMBL ID: ENSG00000141367; HGNC ID: 2092
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLTC|1213|nucleotide
ATGGCCCAGATTCTGCCAATTCGTTTTCAGGAGCATCTCCAGCTCCAGAACCTGGGTATCAACCCAGCAAACATTGGCTTCAGTACCCTGACTATGGAGTCTGAC
AAATTCATCTGCATTAGAGAAAAAGTAGGAGAGCAGGCCCAGGTGGTAATCATTGATATGAATGACCCAAGTAATCCAATTCGAAGACCAATTTCAGCAGACAGC
GCCATCATGAATCCAGCTAGCAAAGTAATTGCACTGAAAGCTGGGAAAACTCTTCAGATTTTTAACATTGAAATGAAAAGTAAAATGAAGGCTCATACCATGACT
GATGATGTCACCTTTTGGAAATGGATCTCTTTGAATACGGTTGCTCTTGTTACGGATAATGCAGTTTATCACTGGAGTATGGAAGGAGAGTCTCAGCCAGTGAAA
ATGTTTGATCGCCATTCTAGCCTTGCAGGGTGCCAGATTATCAATTACCGTACAGATGCAAAACAAAAGTGGTTACTTCTGACTGGTATATCTGCACAGCAAAAT
CGTGTGGTGGGAGCTATGCAGCTATATTCTGTAGATAGGAAAGTGTCTCAGCCCATTGAAGGACATGCAGCTAGCTTTGCACAGTTTAAGATGGAAGGAAATGCA
GAAGAATCAACGTTATTTTGTTTTGCAGTTCGGGGCCAAGCTGGAGGGAAGTTACATATTATTGAAGTTGGCACACCACCTACAGGGAACCAGCCCTTTCCAAAG
AAGGCAGTGGATGTCTTCTTTCCTCCAGAAGCACAAAATGATTTTCCTGTTGCAATGCAGATCAGTGAAAAGCATGATGTGGTGTTCTTGATAACCAAGTATGGT
TATATCCACCTCTATGATCTTGAGACTGGTACCTGCATCTACATGAATAGAATCAGTGGAGAAACAATTTTTGTTACTGCACCTCATGAAGCCACAGCTGGAATA
ATTGGAGTAAACAGAAAGGGACAAGTTCTGTCAGTGTGTGTGGAAGAAGAAAACATAATTCCTTACATCACCAATGTTCTACAAAATCCTGATTTGGCTCTGAGA
ATGGCTGTACGTAATAACTTAGCCGGTGCTGAAGAACTCTTTGCCCGGAAATTTAATGCTCTTTTTGCCCAGGGAAATTACTCGGAGGCAGCAAAGGTGGCTGCT
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>CLTC|1213|protein
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSNPIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMT
DDVTFWKWISLNTVALVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGAMQLYSVDRKVSQPIEGHAASFAQFKMEGNA
EESTLFCFAVRGQAGGKLHIIEVGTPPTGNQPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISGETIFVTAPHEATAGI
IGVNRKGQVLSVCVEEENIIPYITNVLQNPDLALRMAVRNNLAGAEELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGI
LLDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYLRANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRIS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (2) 0 (0) 0 (0) 2 (5)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top