AutismKB 2.0

Evidence Details for CCDC144NL


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Basic Information Top
Gene Symbol:CCDC144NL ( MGC87631 )
Gene Full Name: coiled-coil domain containing 144 family, N-terminal like
Band: 17p11.2
Quick LinksEntrez ID:339184; OMIM: NA; Uniprot ID:C144L_HUMAN; ENSEMBL ID: ENSG00000205212; HGNC ID: 33735
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC144NL|339184|nucleotide
ATGGCCTCCTGGGGTGGAGAAAAGCGGGGAGGGGCTGGGGGGTCTCCGAAGCCGGCAGTCTACGCCACGAGGAAGACCCCTAGTGTTGGGAGCCAGGAGGACCAG
TGGTACTTGGACTACCCGGGGGACCAGTGGTCCTTGGGCTTCTCCTACAGCTGGTGGAAGAACAGCGTCGGCAGCGAGAGCAAGCACGGTGAGGGCGCCTTAGAC
CAGCTCCAGCACGATGTCCGCCTGGAAGATCTTGGCGAGCTCCACAGAGCTGCCCGGTCGGGCGACGTCCCTGGGGTGGAGCACGTCTTGGCTCCTGGAGACACT
GGCGTGGACAAGAGGGATAGGAAGAAGAGCATTCAGCAACTAGTTCCTGAATATAAGGAAAAACAGACACCTGAAAGTCTTCCTCAAAATAACAATCCAGCTGCT
CCAAGCCAGGCTGAAGGAGGAGAAGGAGGAGTCGCCTGTGGTACGGTGGAGCAGATGACGTGGCTCTGCAGCTTGCCTCATGCAGTTGGTGGTGGAGATGGAGAC
CACAGCTCGACTGGAGCGGTAGGAGGGCACCCACGGGGGCCTGGAGAGTATTGTCATCTGCATGAGCAAAGAGTTCATCACCACATCTTTGCAAGAGGAAAAAGA
AAGGGGAAGAATCATGTGTCTAATGTTGTAAGGTAA




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>CCDC144NL|339184|protein
MASWGGEKRGGAGGSPKPAVYATRKTPSVGSQEDQWYLDYPGDQWSLGFSYSWWKNSVGSESKHGEGALDQLQHDVRLEDLGELHRAARSGDVPGVEHVLAPGDT
GVDKRDRKKSIQQLVPEYKEKQTPESLPQNNNPAAPSQAEGGEGGVACGTVEQMTWLCSLPHAVGGGDGDHSSTGAVGGHPRGPGEYCHLHEQRVHHHIFARGKR
KGKNHVSNVVR


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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 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top