Evidence Details for C20orf96
Basic Information Top
| Gene Symbol: | C20orf96 ( FLJ40075,dJ1103G7.2 ) |
|---|---|
| Gene Full Name: | chromosome 20 open reading frame 96 |
| Band: | 20p13 |
| Quick Links | Entrez ID:140680; OMIM: NA; Uniprot ID:CT096_HUMAN; ENSEMBL ID: ENSG00000196476; HGNC ID: 16227 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C20orf96|140680|nucleotide
ATGGCGCATGTCTTACAAAAACCCAAGCACTCTGGGACTCACTCCATAGTCCAGGAGTTCCAGGTTCCGGATTATGTTCCATGGCAGCAGTCCAAGCAGGAAACC
AAGCCATCTACTCTGCCTCCAGTCCAACAAGCCAACAGCCTTCATACAAGCAAAATGAAGACTTTGACTAGGGTCCAACCAGTGTTTCACTTCAAGCCCACTACG
GTGGTGACAAGCTGCCAGCCGAAGAATCCAAGAGAACTACATAGAAGGCGGAAGTTGGACCCTGGGAAGATGCATGCCAAAATCTGGTTAATGAAGACGTCGCTC
AGGAGCGGGAGGGCCGCTCTGCGAGAGCTCCGAAGCCGTGAGAACTTCCTCAGCAAGCTCAACCGGGAGCTGATCGAGACCATCCAGGAGATGGAGAACAGCACG
ACCCTGCACGTGCGGGCCCTGCTGCAGCAGCAGGACACCTTGGCGACCATCATCGACATCTTGGAGTACTCAAACAAGAAGAGGCTGCAGCAATTGAAATCTGAG
CTTCAGGAGTGGGAAGAAAAGAAGAAATGCAAGATGAGCTATCTTGAGCAGCAGGCAGAGCAGCTGAATGCCAAGATTGAGAAGACCCAGGAGGAAGTGAACTTC
CTGAGCACTTACATGGACCATGAGTATTCCATCAAGTCTGTCCAGATCTCCACTCTTATGCGCCAGCTGCAGCAGGTTAAGGACAGCCAGCAGGATGAGCTGGAT
GACCTCGGTGAGATGCGCAGAAAGGTCCTGGAATCCTTGTCCGACAAGATTCAGAAGAAGAAGAAAAAAATTCTGAGTTCTGTGGTGGCGGAAACCCAGCGTCCC
TATGAAGAGGCTCTCCTACAGAAGATGTGGGAAAGCCAGGACTTCCTGAAATGCATGCAAAGGTTCAGAGAATTTATTGACCAGTTTGAGGAGAACATGCCTGTA
TTAAGGGCCGAGGTGGAAGAGCTCCAAGCCCAGACCCGGGAACCCCGAGAGGTCATATTTGAGGATGTTCTGCTTCGGAGACCCAAGTGCACCCCAGACATGGAT
GTCATCCTCAACATTCCTGTGGAAGAGCCACTACCCTTCTAG
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ATGGCGCATGTCTTACAAAAACCCAAGCACTCTGGGACTCACTCCATAGTCCAGGAGTTCCAGGTTCCGGATTATGTTCCATGGCAGCAGTCCAAGCAGGAAACC
AAGCCATCTACTCTGCCTCCAGTCCAACAAGCCAACAGCCTTCATACAAGCAAAATGAAGACTTTGACTAGGGTCCAACCAGTGTTTCACTTCAAGCCCACTACG
GTGGTGACAAGCTGCCAGCCGAAGAATCCAAGAGAACTACATAGAAGGCGGAAGTTGGACCCTGGGAAGATGCATGCCAAAATCTGGTTAATGAAGACGTCGCTC
AGGAGCGGGAGGGCCGCTCTGCGAGAGCTCCGAAGCCGTGAGAACTTCCTCAGCAAGCTCAACCGGGAGCTGATCGAGACCATCCAGGAGATGGAGAACAGCACG
ACCCTGCACGTGCGGGCCCTGCTGCAGCAGCAGGACACCTTGGCGACCATCATCGACATCTTGGAGTACTCAAACAAGAAGAGGCTGCAGCAATTGAAATCTGAG
CTTCAGGAGTGGGAAGAAAAGAAGAAATGCAAGATGAGCTATCTTGAGCAGCAGGCAGAGCAGCTGAATGCCAAGATTGAGAAGACCCAGGAGGAAGTGAACTTC
CTGAGCACTTACATGGACCATGAGTATTCCATCAAGTCTGTCCAGATCTCCACTCTTATGCGCCAGCTGCAGCAGGTTAAGGACAGCCAGCAGGATGAGCTGGAT
GACCTCGGTGAGATGCGCAGAAAGGTCCTGGAATCCTTGTCCGACAAGATTCAGAAGAAGAAGAAAAAAATTCTGAGTTCTGTGGTGGCGGAAACCCAGCGTCCC
TATGAAGAGGCTCTCCTACAGAAGATGTGGGAAAGCCAGGACTTCCTGAAATGCATGCAAAGGTTCAGAGAATTTATTGACCAGTTTGAGGAGAACATGCCTGTA
TTAAGGGCCGAGGTGGAAGAGCTCCAAGCCCAGACCCGGGAACCCCGAGAGGTCATATTTGAGGATGTTCTGCTTCGGAGACCCAAGTGCACCCCAGACATGGAT
GTCATCCTCAACATTCCTGTGGAAGAGCCACTACCCTTCTAG
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>C20orf96|140680|protein
MAHVLQKPKHSGTHSIVQEFQVPDYVPWQQSKQETKPSTLPPVQQANSLHTSKMKTLTRVQPVFHFKPTTVVTSCQPKNPRELHRRRKLDPGKMHAKIWLMKTSL
RSGRAALRELRSRENFLSKLNRELIETIQEMENSTTLHVRALLQQQDTLATIIDILEYSNKKRLQQLKSELQEWEEKKKCKMSYLEQQAEQLNAKIEKTQEEVNF
LSTYMDHEYSIKSVQISTLMRQLQQVKDSQQDELDDLGEMRRKVLESLSDKIQKKKKKILSSVVAETQRPYEEALLQKMWESQDFLKCMQRFREFIDQFEENMPV
LRAEVEELQAQTREPREVIFEDVLLRRPKCTPDMDVILNIPVEEPLPF
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MAHVLQKPKHSGTHSIVQEFQVPDYVPWQQSKQETKPSTLPPVQQANSLHTSKMKTLTRVQPVFHFKPTTVVTSCQPKNPRELHRRRKLDPGKMHAKIWLMKTSL
RSGRAALRELRSRENFLSKLNRELIETIQEMENSTTLHVRALLQQQDTLATIIDILEYSNKKRLQQLKSELQEWEEKKKCKMSYLEQQAEQLNAKIEKTQEEVNF
LSTYMDHEYSIKSVQISTLMRQLQQVKDSQQDELDDLGEMRRKVLESLSDKIQKKKKKILSSVVAETQRPYEEALLQKMWESQDFLKCMQRFREFIDQFEENMPV
LRAEVEELQAQTREPREVIFEDVLLRRPKCTPDMDVILNIPVEEPLPF
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (3) |
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 | ||||||
| Sebat, 2007 | USA | aCGH | ![]() | ![]() | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS 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 Top
NGS Other Studies Top
Low Scale Gene Studies Top
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