Evidence Details for CASP8AP2
Basic Information Top
| Gene Symbol: | CASP8AP2 ( CED-4,FLASH,FLJ11208,KIAA1315,RIP25 ) |
|---|---|
| Gene Full Name: | caspase 8 associated protein 2 |
| Band: | 6q15 |
| Quick Links | Entrez 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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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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MAADDDNGDGTSLFDVFSASPLKNNDEGSLDIYAGLDSAVSDSASKSCVPSRNCLDLYEEILTEEGTAKEATYNDLQVEYGKCQLQMKELMKKFKEIQTQNFSLI
NENQSLKKNISALIKTARVEINRKDEEISNLHQRLSEFPHFRNNHKTARTFDTVKTKDLKSRSPHLDDCSKTDHRAKSDVSKDVHHSTSLPNLEKEGKPHSDKRS
TSHLPTSVEKHCTNGVWSRSHYQVGEGSSNEDSRRGRKDIRHSQFNRGTERVRKDLSTGCGDGEPRILEASQRLQGHPEKYGKGEPKTESKSSKFKSNSDSDYKG
ERINSSWEKETPGERSHSRVDSQSDKKLERQSERSQNINRKEVKSQDKEERKVDQKPKSVVKDQDHWRRSERASLPHSKNEITFSHNSSKYHLEERRGWEDCKRD
KSVNSHSFQDGRCPSSLSNSRTHKNIDSKEVDAMHQWENTPLKAERHRTEDKRKREQESKEENRHIRNEKRVPTEHLQKTNKETKKTTTDLKKQNEPKTDKGEVL
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Evidence summary TopClick 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 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Ma, 2007 | USA | SNP-based genomic screen |  |  | autism | 26 | - | 26 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.