AutismKB 2.0

Evidence Details for CCDC96


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Basic Information Top
Gene Symbol:CCDC96 ( FLJ90575,MGC138479 )
Gene Full Name: coiled-coil domain containing 96
Band: 4p16.1
Quick LinksEntrez ID:257236; OMIM: NA; Uniprot ID:CCD96_HUMAN; ENSEMBL ID: ENSG00000173013; HGNC ID: 26900
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC96|257236|nucleotide
ATGGACGTCAGCTCTGAGCACACTAAGGACCCCGGCGGGGAAGGCGGAGACGGGGAAAGCCTGGCCGCGCGGCCGTCCAAGATCAAGGCCAGCTCTGGCCCTCCG
ACCTCTCCCGAACCCGGGGAGCTGGAGTCGGAGCCGGAGGAGGAGGAGGAGGAGCAAGCGGCTTCGCAGGGAGGCACCGCCGCGGACGAGCAGGCCGAGGCCCCG
AAAGGGCTAACGGCAGCCGAGGCTGCGGGCGAGGAGGGGCCTGGAGAGCCGGGGAGGCCGGCCGAGCCCCAGCCCGAGCCCGAAGAGCCGGCCGAGGTCGGGGCT
GAGGAGCCCGCCCAGCCGGAGCCCGGAGCCGGGCCCGAGGAACTAGAGGCGGAGGCGGGGGCGGAGGAACTGGAGCAGGCGGCAGAGGGGAAGGAAGTCAGGTTC
CAGGCCTCTCTGCCGCTGACCAGGATCGATGAGGAAGAGGCTGCTGCAGCCCCGGAGGCCGAGACAGAGCGGGTGGAGGGGGAGGAAGAGGACAAGGAGGAGACG
CAGAGAGACGGCGCGGAGAGCAAGGAGAGGGATGGGGAAGGACGCCCGGCCAAAAGCCAGGAAGAGGGGAAGCGCCTCTATGGAAGGGACGAGTTTGAGGACCTC
GAGTGGTCCGAGGAGGTCCAGAAGCTGCAGGAGCAGCAGCTGCGCAGCGACCTCCTGGACCAGTACCGTTCCCTGCTGGTGGAGCGGAACCGCTCCCAGCGCTAC
AACCTATACCTGCAGCACAAGATCTTCGAGGCGCTGCGCAGAAAGAAGGGCCTGGAGGCCGCTGAGGTGGCTGACCGGGGCGCAGAGGCCGAGGCCCCCGAGAAA
GAGCAAGCGTACCTGCGCCATCTGGGCATGCTGGAGGAGCTGAAGAAGCAGCAGGCAGACGACCTGCAGTGGTACCACCAGGAGCTGGGCCAGTTGAAGCGGCAG
TGCCAGGAGAAGCTCACCAGGGTGGAGAAGGAGTGGCGACGCTTCCAGGCACTCAAGAAGCAGGTGGTGATGCAGGCCATGGGCAGCTGTCGGATGAGGGGCGGG
CGCCAGGCTGCTCTGCGAGAGGTGGAGCAGATCCAGGCGTTGGAGGATAAAAAGGAGAAGGAGATGAGCGCCGTGCGGCTGGAGAACATTCAGCTGAAGCAGAGC
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>CCDC96|257236|protein
MDVSSEHTKDPGGEGGDGESLAARPSKIKASSGPPTSPEPGELESEPEEEEEEQAASQGGTAADEQAEAPKGLTAAEAAGEEGPGEPGRPAEPQPEPEEPAEVGA
EEPAQPEPGAGPEELEAEAGAEELEQAAEGKEVRFQASLPLTRIDEEEAAAAPEAETERVEGEEEDKEETQRDGAESKERDGEGRPAKSQEEGKRLYGRDEFEDL
EWSEEVQKLQEQQLRSDLLDQYRSLLVERNRSQRYNLYLQHKIFEALRRKKGLEAAEVADRGAEAEAPEKEQAYLRHLGMLEELKKQQADDLQWYHQELGQLKRQ
CQEKLTRVEKEWRRFQALKKQVVMQAMGSCRMRGGRQAALREVEQIQALEDKKEKEMSAVRLENIQLKQSLVHFETRMRTQEDLTQGLLLIDFEQLKIENQTFNE
KIEERNEELLKLRSKVTNSVQVITHVKEKLHFMDMENACKKTQLAEIEAQAALGRDILTKTKQAREGLRTDNIRLNQKCGLLGKDSLLRDLEEKVDKTELLHRRL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top