AutismKB 2.0

Evidence Details for CASP8AP2


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Basic Information Top
Gene Symbol:CASP8AP2 ( CED-4,FLASH,FLJ11208,KIAA1315,RIP25 )
Gene Full Name: caspase 8 associated protein 2
Band: 6q15
Quick LinksEntrez ID:9994; OMIM: 606880; Uniprot ID:C8AP2_HUMAN; ENSEMBL ID: ENSG00000118412; HGNC ID: 1510
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CASP8AP2|9994|nucleotide
ATGGCAGCAGATGATGACAATGGTGATGGAACAAGTTTATTTGATGTCTTTTCTGCTTCTCCTCTTAAGAACAATGATGAAGGCTCACTGGACATATACGCTGGG
TTGGACAGTGCTGTTTCTGACAGCGCTTCCAAATCCTGTGTACCATCAAGAAATTGTTTGGACTTATATGAAGAGATCCTGACTGAAGAAGGAACTGCAAAGGAG
GCAACATATAATGATTTGCAAGTAGAATATGGAAAATGTCAACTACAAATGAAAGAGCTGATGAAAAAATTTAAAGAAATACAGACACAGAATTTCAGCTTAATA
AACGAAAACCAGTCTCTTAAGAAGAATATTTCAGCACTTATCAAAACTGCCAGAGTGGAAATAAACCGCAAGGATGAAGAAATAAGTAATCTTCACCAAAGATTG
TCTGAGTTTCCACATTTTCGAAATAATCATAAAACTGCAAGGACATTTGATACAGTTAAAACAAAAGATCTTAAATCTAGATCTCCACATTTGGATGATTGTTCA
AAGACTGATCACAGAGCTAAAAGTGATGTTTCTAAAGATGTACATCATAGCACTTCACTGCCAAATCTGGAAAAGGAAGGAAAACCACATTCTGATAAAAGGAGT
ACTTCACATTTACCTACATCTGTTGAGAAACACTGCACTAATGGTGTTTGGTCACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAAATGAGGATAGTAGAAGA
GGAAGAAAAGATATTAGACATAGCCAGTTTAACAGAGGAACTGAAAGAGTACGAAAAGACTTAAGTACTGGCTGTGGTGATGGTGAACCAAGGATATTGGAGGCT
AGTCAAAGGCTACAAGGACATCCTGAGAAATATGGTAAAGGTGAACCAAAGACTGAAAGCAAAAGTTCGAAGTTTAAAAGTAACTCAGATTCTGACTATAAAGGT
GAACGCATTAACTCTTCTTGGGAGAAAGAGACCCCTGGAGAAAGGTCACACAGTCGAGTAGACTCTCAAAGTGACAAAAAACTAGAAAGACAAAGTGAAAGATCA
CAAAATATAAATAGGAAAGAAGTTAAATCACAAGACAAAGAAGAAAGAAAAGTTGATCAAAAACCTAAATCAGTAGTAAAGGACCAAGATCACTGGAGAAGATCT
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>CASP8AP2|9994|protein
MAADDDNGDGTSLFDVFSASPLKNNDEGSLDIYAGLDSAVSDSASKSCVPSRNCLDLYEEILTEEGTAKEATYNDLQVEYGKCQLQMKELMKKFKEIQTQNFSLI
NENQSLKKNISALIKTARVEINRKDEEISNLHQRLSEFPHFRNNHKTARTFDTVKTKDLKSRSPHLDDCSKTDHRAKSDVSKDVHHSTSLPNLEKEGKPHSDKRS
TSHLPTSVEKHCTNGVWSRSHYQVGEGSSNEDSRRGRKDIRHSQFNRGTERVRKDLSTGCGDGEPRILEASQRLQGHPEKYGKGEPKTESKSSKFKSNSDSDYKG
ERINSSWEKETPGERSHSRVDSQSDKKLERQSERSQNINRKEVKSQDKEERKVDQKPKSVVKDQDHWRRSERASLPHSKNEITFSHNSSKYHLEERRGWEDCKRD
KSVNSHSFQDGRCPSSLSNSRTHKNIDSKEVDAMHQWENTPLKAERHRTEDKRKREQESKEENRHIRNEKRVPTEHLQKTNKETKKTTTDLKKQNEPKTDKGEVL
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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 (0) 1 (1) 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
Linkage Studies Top