AutismKB 2.0

Evidence Details for MUC16


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Basic Information Top
Gene Symbol:MUC16 ( CA125,FLJ14303 )
Gene Full Name: mucin 16, cell surface associated
Band: 19p13.2
Quick LinksEntrez ID:94025; OMIM: 606154; Uniprot ID:MUC16_HUMAN; ENSEMBL ID: ENSG00000181143; HGNC ID: 15582
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUC16|94025|nucleotide
ATGCTGAAACCCTCAGGCCTTCCTGGGTCATCTTCTCCCACCCGCTCCTTGATGACAGGGAGCAGGAGCACTAAAGCCACACCAGAAATGGATTCAGGACTGACA
GGAGCCACCTTGTCACCTAAGACATCTACAGGTGCAATCGTGGTGACAGAACATACTCTGCCCTTTACTTCCCCAGATAAGACCTTGGCCAGTCCTACATCTTCG
GTTGTGGGAAGAACCACCCAGTCTTTGGGGGTGATGTCCTCTGCTCTCCCTGAGTCAACCTCTAGAGGAATGACACACTCCGAGCAAAGAACCAGCCCATCGCTG
AGTCCCCAGGTCAATGGAACTCCCTCTAGGAACTACCCTGCTACAAGCATGGTTTCAGGATTGAGTTCCCCAAGGACCAGGACCAGTTCCACAGAAGGAAATTTT
ACCAAAGAAGCATCTACATACACACTCACTGTAGAGACCACAAGTGGCCCAGTCACTGAGAAGTACACAGTCCCCACTGAGACCTCAACAACTGAAGGTGACAGC
ACAGAGACCCCCTGGGACACAAGATATATTCCTGTAAAAATCACATCTCCAATGAAAACATTTGCAGATTCAACTGCATCCAAGGAAAATGCCCCAGTGTCTATG
ACTCCAGCTGAGACCACAGTTACTGACTCACATACTCCAGGAAGGACAAACCCATCATTTGGGACACTTTATTCTTCCTTCCTTGACCTATCACCTAAAGGGACC
CCAAATTCCAGAGGTGAAACAAGCCTGGAACTGATTCTATCAACCACTGGATATCCCTTCTCCTCTCCTGAACCTGGCTCTGCAGGACACAGCAGAATAAGTACC
AGTGCGCCTTTGTCATCATCTGCTTCAGTTCTCGATAATAAAATATCAGAGACCAGCATATTCTCAGGCCAGAGTCTCACCTCCCCTCTGTCTCCTGGGGTGCCC
GAGGCCAGAGCCAGCACAATGCCCAACTCAGCTATCCCTTTTTCCATGACACTAAGCAATGCAGAAACAAGTGCCGAAAGGGTCAGAAGCACAATTTCCTCTCTG
GGGACTCCATCAATATCCACAAAGCAGACAGCAGAGACTATCCTTACCTTCCATGCCTTCGCTGAGACCATGGATATACCCAGCACCCACATAGCCAAGACTTTG
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>MUC16|94025|protein
MLKPSGLPGSSSPTRSLMTGSRSTKATPEMDSGLTGATLSPKTSTGAIVVTEHTLPFTSPDKTLASPTSSVVGRTTQSLGVMSSALPESTSRGMTHSEQRTSPSL
SPQVNGTPSRNYPATSMVSGLSSPRTRTSSTEGNFTKEASTYTLTVETTSGPVTEKYTVPTETSTTEGDSTETPWDTRYIPVKITSPMKTFADSTASKENAPVSM
TPAETTVTDSHTPGRTNPSFGTLYSSFLDLSPKGTPNSRGETSLELILSTTGYPFSSPEPGSAGHSRISTSAPLSSSASVLDNKISETSIFSGQSLTSPLSPGVP
EARASTMPNSAIPFSMTLSNAETSAERVRSTISSLGTPSISTKQTAETILTFHAFAETMDIPSTHIAKTLASEWLGSPGTLGGTSTSALTTTSPSTTLVSEETNT
HHSTSGKETEGTLNTSMTPLETSAPGEESEMTATLVPTLGFTTLDSKIRSPSQVSSSHPTRELRTTGSTSGRQSSSTAAHGSSDILRATTSSTSKASSWTSESTA
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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 (1) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (4)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top