AutismKB 2.0

Evidence Details for CCDC136


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CCDC136 ( DKFZp434G156,MGC129657,MGC176632 )
Gene Full Name: coiled-coil domain containing 136
Band: 7q32.1
Quick LinksEntrez ID:64753; OMIM: 611902; Uniprot ID:CC136_HUMAN; ENSEMBL ID: ENSG00000128596; HGNC ID: 22225
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC136|64753|nucleotide
ATGGAGGCGGGCGCCGGAGCCGGCGCGGGAGCCGCGGGCTGGAGCTGCCCGGGCCCAGGACCCACAGTGACCACTCTAGGCTCCTATGAGGCTTCCGAGGGCTGT
GAGAGGAAGAAGGGCCAACGCTGGGGGTCCCTGGAACGACGGGGGATGCAAGCTATGGAGGGGGAGGTGTTACTCCCAGCTCTCTATGAGGAGGAAGAGGAAGAG
GAAGAGGAGGAAGAAGAGGTGGAAGAAGAAGAAGAACAAGTGCAGAAAGGTGGCAGTGTTGGCTCTCTGTCAGTCAACAAGCACCGGGGACTGAGCCTCACGGAG
ACAGAGCTGGAGGAGCTGCGGGCTCAGGTGCTGCAGCTGGTGGCAGAACTGGAGGAGACCCGGGAACTGGCAGGGCAGCATGAGGATGACTCCTTGGAGCTACAG
GGGCTCCTGGAGGATGAACGGCTAGCCAGCGCCCAGCAGGCAGAGGTGTTCACCAAGCAGATCCAGCAGCTCCAAGGTGAGCTGCGTTCTCTACGGGAGGAGATT
TCCCTGTTAGAGCATGAGAAAGAAAGCGAACTTAAGGAAATAGAACAGGAATTGCATTTGGCCCAGGCTGAGATCCAGAGTCTGCGGCAAGCAGCAGAGGATTCC
GCAACTGAACATGAGAGTGACATAGCATCCCTGCAGGAGGATCTCTGCCGGATGCAGAATGAACTTGAAGACATGGAACGCATTCGGGGAGATTATGAGATGGAG
ATCGCCTCCCTCCGTGCAGAAATGGAAATGAAGAGCTCTGAACCATCCGAAGAACTGCAGGAGCTGCGGGAACGCTACCATTTCCTGAATGAGGAATACCGGGCC
CTGCAGGAGAGCAACAGCAGCCTCACGGGGCAGCTTGCAGATCTGGAGAGTGAGAGGACACAGAGAGCAACAGAGAGATGGCTGCAGTCCCAAACACTGAGTATG
ACGTCAGCAGAGTCTCAGACTTCAGAAATGGATTTCTTAGAGCCTGATCCTGAAATGCAGTTGTTACGGCAGCAGCTACGGGATGCTGAAGAGCAGATGCATGGC
ATGAAGAACAAGTGTCAGGAATTGTGTTGTGAGTTGGAAGAGCTACAGCATCATCGCCAGGTCAGTGAGGAGGAGCAGAGGCGGCTGCAGAGGGAGCTCAAGTGT
Show »

>CCDC136|64753|protein
MEAGAGAGAGAAGWSCPGPGPTVTTLGSYEASEGCERKKGQRWGSLERRGMQAMEGEVLLPALYEEEEEEEEEEEEVEEEEEQVQKGGSVGSLSVNKHRGLSLTE
TELEELRAQVLQLVAELEETRELAGQHEDDSLELQGLLEDERLASAQQAEVFTKQIQQLQGELRSLREEISLLEHEKESELKEIEQELHLAQAEIQSLRQAAEDS
ATEHESDIASLQEDLCRMQNELEDMERIRGDYEMEIASLRAEMEMKSSEPSEELQELRERYHFLNEEYRALQESNSSLTGQLADLESERTQRATERWLQSQTLSM
TSAESQTSEMDFLEPDPEMQLLRQQLRDAEEQMHGMKNKCQELCCELEELQHHRQVSEEEQRRLQRELKCAQNEVLRFQTSHSVTQSSPTPNPPIFSLPLVGLVV
ISALLWCWWAETSS
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (6)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top