Evidence Details for ESF1
Basic Information Top
Gene Symbol: | ESF1 ( ABTAP,C20orf6,FLJ20368,bA526K24.1 ) |
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Gene Full Name: | ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) |
Band: | 20p12.1 |
Quick Links | Entrez ID:51575; OMIM: NA; Uniprot ID:ESF1_HUMAN; ENSEMBL ID: ENSG00000089048; HGNC ID: 15898 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ESF1|51575|nucleotide
ATGTCATCCAAACAAGAAATAATGAGTGACCAGCGGTTTAGACGGGTTGCAAAGGACCCGAGATTTTGGGAAATGCCAGAAAAGGATCGAAAAGTCAAAATTGAC
AAGAGATTTCGAGCCATGTTTCATGACAAGAAGTTCAAGTTGAACTATGCCGTGGATAAAAGAGGGCGCCCCATTAGCCATAGCACTACAGAGGATTTGAAGCGT
TTTTACGACCTTTCAGATTCTGATTCCAATCTCTCTGGTGAAGATAGCAAAGCATTGAGTCAAAAGAAAATAAAGAAGAAAAAAACCCAGACTAAAAAAGAAATC
GATTCAAAAAATCTAGTTGAGAAAAAGAAAGAAACCAAGAAGGCTAATCACAAGGGTTCTGAAAATAAAACTGATTTAGATAATTCTATAGGAATTAAAAAAATG
AAAACCTCATGTAAATTTAAGATAGATTCAAACATAAGTCCGAAGAAGGATAGCAAAGAATTTACACAAAAAAATAAGAAAGAGAAAAAAAACATTGTTCAACAT
ACTACAGACTCTTCTCTCGAAGAAAAACAAAGGACATTAGACTCAGGCACCTCTGAAATTGTGAAATCTCCCAGAATCGAGTGTTCTAAGACAAGAAGAGAAATG
CAATCAGTGGTTCAACTCATAATGACAAGAGACAGTGATGGTTATGAAAACTCAACAGATGGTGAAATGTGTGACAAAGATGCTCTGGAGGAAGATTCAGAAAGC
GTTAGTGAAATAGGAAGTGATGAGGAATCTGAAAATGAAATTACAAGTGTTGGTAGAGCTTCAGGTGATGACGATGGAAGTGAAGATGATGAAGAGGAGGATGAA
GATGAAGAGGAGGATGAAGATGAGGATAGTGAGGATGATGATAAAAGTGACAGTGGCCCTGATCTTGCAAGGGGTAAAGGAAATATAGAAACTAGTTCTGAAGAT
GAAGATGATACGGCAGATTTGTTTCCAGAAGAATCTGGTTTTGAGCATGCTTGGAGAGAATTAGATAAAGATGCTCCTCGTGCTGATGAGATTACACGTCGATTA
GCAGTTTGTAACATGGACTGGGATAGATTAAAGGCAAAAGATTTGCTGGCTCTGTTCAATTCATTTAAACCCAAAGGAGGTGTAATATTTTCCGTCAAGATATAT
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ATGTCATCCAAACAAGAAATAATGAGTGACCAGCGGTTTAGACGGGTTGCAAAGGACCCGAGATTTTGGGAAATGCCAGAAAAGGATCGAAAAGTCAAAATTGAC
AAGAGATTTCGAGCCATGTTTCATGACAAGAAGTTCAAGTTGAACTATGCCGTGGATAAAAGAGGGCGCCCCATTAGCCATAGCACTACAGAGGATTTGAAGCGT
TTTTACGACCTTTCAGATTCTGATTCCAATCTCTCTGGTGAAGATAGCAAAGCATTGAGTCAAAAGAAAATAAAGAAGAAAAAAACCCAGACTAAAAAAGAAATC
GATTCAAAAAATCTAGTTGAGAAAAAGAAAGAAACCAAGAAGGCTAATCACAAGGGTTCTGAAAATAAAACTGATTTAGATAATTCTATAGGAATTAAAAAAATG
AAAACCTCATGTAAATTTAAGATAGATTCAAACATAAGTCCGAAGAAGGATAGCAAAGAATTTACACAAAAAAATAAGAAAGAGAAAAAAAACATTGTTCAACAT
ACTACAGACTCTTCTCTCGAAGAAAAACAAAGGACATTAGACTCAGGCACCTCTGAAATTGTGAAATCTCCCAGAATCGAGTGTTCTAAGACAAGAAGAGAAATG
CAATCAGTGGTTCAACTCATAATGACAAGAGACAGTGATGGTTATGAAAACTCAACAGATGGTGAAATGTGTGACAAAGATGCTCTGGAGGAAGATTCAGAAAGC
GTTAGTGAAATAGGAAGTGATGAGGAATCTGAAAATGAAATTACAAGTGTTGGTAGAGCTTCAGGTGATGACGATGGAAGTGAAGATGATGAAGAGGAGGATGAA
GATGAAGAGGAGGATGAAGATGAGGATAGTGAGGATGATGATAAAAGTGACAGTGGCCCTGATCTTGCAAGGGGTAAAGGAAATATAGAAACTAGTTCTGAAGAT
GAAGATGATACGGCAGATTTGTTTCCAGAAGAATCTGGTTTTGAGCATGCTTGGAGAGAATTAGATAAAGATGCTCCTCGTGCTGATGAGATTACACGTCGATTA
GCAGTTTGTAACATGGACTGGGATAGATTAAAGGCAAAAGATTTGCTGGCTCTGTTCAATTCATTTAAACCCAAAGGAGGTGTAATATTTTCCGTCAAGATATAT
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>ESF1|51575|protein
MSSKQEIMSDQRFRRVAKDPRFWEMPEKDRKVKIDKRFRAMFHDKKFKLNYAVDKRGRPISHSTTEDLKRFYDLSDSDSNLSGEDSKALSQKKIKKKKTQTKKEI
DSKNLVEKKKETKKANHKGSENKTDLDNSIGIKKMKTSCKFKIDSNISPKKDSKEFTQKNKKEKKNIVQHTTDSSLEEKQRTLDSGTSEIVKSPRIECSKTRREM
QSVVQLIMTRDSDGYENSTDGEMCDKDALEEDSESVSEIGSDEESENEITSVGRASGDDDGSEDDEEEDEDEEEDEDEDSEDDDKSDSGPDLARGKGNIETSSED
EDDTADLFPEESGFEHAWRELDKDAPRADEITRRLAVCNMDWDRLKAKDLLALFNSFKPKGGVIFSVKIYPSEFGKERMKEEQVQGPVELLSIPEDAPEKDWTSR
EKLRDYQFKRLKYYYAVVDCDSPETASKIYEDCDGLEFESSCSFIDLRFIPDDITFDDEPKDVASEVNLTAYKPKYFTSAAMGTSTVEITWDETDHERITMLNRK
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MSSKQEIMSDQRFRRVAKDPRFWEMPEKDRKVKIDKRFRAMFHDKKFKLNYAVDKRGRPISHSTTEDLKRFYDLSDSDSNLSGEDSKALSQKKIKKKKTQTKKEI
DSKNLVEKKKETKKANHKGSENKTDLDNSIGIKKMKTSCKFKIDSNISPKKDSKEFTQKNKKEKKNIVQHTTDSSLEEKQRTLDSGTSEIVKSPRIECSKTRREM
QSVVQLIMTRDSDGYENSTDGEMCDKDALEEDSESVSEIGSDEESENEITSVGRASGDDDGSEDDEEEDEDEEEDEDEDSEDDDKSDSGPDLARGKGNIETSSED
EDDTADLFPEESGFEHAWRELDKDAPRADEITRRLAVCNMDWDRLKAKDLLALFNSFKPKGGVIFSVKIYPSEFGKERMKEEQVQGPVELLSIPEDAPEKDWTSR
EKLRDYQFKRLKYYYAVVDCDSPETASKIYEDCDGLEFESSCSFIDLRFIPDDITFDDEPKDVASEVNLTAYKPKYFTSAAMGTSTVEITWDETDHERITMLNRK
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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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