Evidence Details for CELF4
Basic Information Top
| Gene Symbol: | CELF4 ( BRUNOL-4,BRUNOL4 ) |
|---|---|
| Gene Full Name: | CUGBP, Elav-like family member 4 |
| Band: | 18q12.2 |
| Quick Links | Entrez ID:56853; OMIM: 612679; Uniprot ID:CELF4_HUMAN; ENSEMBL ID: ENSG00000101489; HGNC ID: 14015 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CELF4|56853|nucleotide
ATGTATATAAAGATGGCCACGTTAGCAAACGGACAGGCTGACAACGCAAGCCTCAGTACCAACGGGCTCGGCAGCAGCCCGGGCAGTGCCGGGCACATGAACGGA
TTAAGCCACAGCCCGGGGAACCCGTCGACCATTCCCATGAAGGACCACGATGCCATCAAGCTGTTCATTGGGCAGATCCCCCGCAACCTGGATGAGAAGGACCTC
AAGCCCCTCTTCGAGGAGTTTGGCAAAATCTACGAGCTTACGGTTCTGAAGGACAGGTTCACAGGCATGCACAAAGGCTGCGCCTTCCTCACCTACTGCGAGCGT
GAGTCAGCGCTGAAGGCCCAGAGCGCGCTGCACGAGCAGAAGACTCTGCCCGGGATGAACCGGCCGATCCAGGTGAAGCCTGCGGACAGCGAGAGCCGAGGAGGT
AGTAGCTGCCTGCGCCAGCCCCCTTCACAAGATAGAAAACTCTTCGTGGGCATGCTCAACAAGCAACAGTCCGAGGACGACGTGCGCCGCCTTTTCGAGGCCTTT
GGGAACATCGAGGAGTGCACCATCCTGCGCGGGCCCGACGGCAACAGCAAGGGGTGCGCCTTTGTGAAGTACTCCTCCCACGCCGAGGCGCAGGCCGCCATCAAC
GCGCTACACGGCAGCCAGACCATGCCGGGAGCCTCGTCCAGTCTGGTGGTCAAGTTCGCCGACACCGACAAGGAGCGCACGATGCGGCGAATGCAGCAGATGGCT
GGCCAGATGGGCATGTTCAACCCCATGGCCATCCCTTTCGGGGCCTACGGCGCCTACGCTCAGGCAATGCAGCAGCAAGCGGCCCTGATGGCATCAGTCGCGCAG
GGCGGCTACCTGAACCCCATGGCTGCCTTCGCTGCCGCCCAGATGCAGCAGATGGCGGCCCTCAACATGAATGGCCTGGCGGCCGCACCTATGACCCCAACCTCA
GGTGGCAGCACCCCTCCGGGCATCACTGCACCAGCCGTGCCTAGCATCCCATCCCCCATTGGGGTGAATGGCTTCACCGGCCTCCCCCCACAGGCCAATGGGCAA
CCTGCTGCGGAAGCTGTGTTCGCCAATGGCATCCACCCCTACCCAGCACAGAGCCCCACCGCCGCGGACCCCCTGCAGCAGGCCTACGCCGGAGTGCAGCAGTAT
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ATGTATATAAAGATGGCCACGTTAGCAAACGGACAGGCTGACAACGCAAGCCTCAGTACCAACGGGCTCGGCAGCAGCCCGGGCAGTGCCGGGCACATGAACGGA
TTAAGCCACAGCCCGGGGAACCCGTCGACCATTCCCATGAAGGACCACGATGCCATCAAGCTGTTCATTGGGCAGATCCCCCGCAACCTGGATGAGAAGGACCTC
AAGCCCCTCTTCGAGGAGTTTGGCAAAATCTACGAGCTTACGGTTCTGAAGGACAGGTTCACAGGCATGCACAAAGGCTGCGCCTTCCTCACCTACTGCGAGCGT
GAGTCAGCGCTGAAGGCCCAGAGCGCGCTGCACGAGCAGAAGACTCTGCCCGGGATGAACCGGCCGATCCAGGTGAAGCCTGCGGACAGCGAGAGCCGAGGAGGT
AGTAGCTGCCTGCGCCAGCCCCCTTCACAAGATAGAAAACTCTTCGTGGGCATGCTCAACAAGCAACAGTCCGAGGACGACGTGCGCCGCCTTTTCGAGGCCTTT
GGGAACATCGAGGAGTGCACCATCCTGCGCGGGCCCGACGGCAACAGCAAGGGGTGCGCCTTTGTGAAGTACTCCTCCCACGCCGAGGCGCAGGCCGCCATCAAC
GCGCTACACGGCAGCCAGACCATGCCGGGAGCCTCGTCCAGTCTGGTGGTCAAGTTCGCCGACACCGACAAGGAGCGCACGATGCGGCGAATGCAGCAGATGGCT
GGCCAGATGGGCATGTTCAACCCCATGGCCATCCCTTTCGGGGCCTACGGCGCCTACGCTCAGGCAATGCAGCAGCAAGCGGCCCTGATGGCATCAGTCGCGCAG
GGCGGCTACCTGAACCCCATGGCTGCCTTCGCTGCCGCCCAGATGCAGCAGATGGCGGCCCTCAACATGAATGGCCTGGCGGCCGCACCTATGACCCCAACCTCA
GGTGGCAGCACCCCTCCGGGCATCACTGCACCAGCCGTGCCTAGCATCCCATCCCCCATTGGGGTGAATGGCTTCACCGGCCTCCCCCCACAGGCCAATGGGCAA
CCTGCTGCGGAAGCTGTGTTCGCCAATGGCATCCACCCCTACCCAGCACAGAGCCCCACCGCCGCGGACCCCCTGCAGCAGGCCTACGCCGGAGTGCAGCAGTAT
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>CELF4|56853|protein
MYIKMATLANGQADNASLSTNGLGSSPGSAGHMNGLSHSPGNPSTIPMKDHDAIKLFIGQIPRNLDEKDLKPLFEEFGKIYELTVLKDRFTGMHKGCAFLTYCER
ESALKAQSALHEQKTLPGMNRPIQVKPADSESRGGSSCLRQPPSQDRKLFVGMLNKQQSEDDVRRLFEAFGNIEECTILRGPDGNSKGCAFVKYSSHAEAQAAIN
ALHGSQTMPGASSSLVVKFADTDKERTMRRMQQMAGQMGMFNPMAIPFGAYGAYAQAMQQQAALMASVAQGGYLNPMAAFAAAQMQQMAALNMNGLAAAPMTPTS
GGSTPPGITAPAVPSIPSPIGVNGFTGLPPQANGQPAAEAVFANGIHPYPAQSPTAADPLQQAYAGVQQYAGPAAYPAAYGQISQAFPQPPPMIPQQQREGPEGC
NLFIYHLPQEFGDAELMQMFLPFGFVSFDNPASAQTAIQAMNGFQIGMKRLKVQLKRPKDANRPY
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MYIKMATLANGQADNASLSTNGLGSSPGSAGHMNGLSHSPGNPSTIPMKDHDAIKLFIGQIPRNLDEKDLKPLFEEFGKIYELTVLKDRFTGMHKGCAFLTYCER
ESALKAQSALHEQKTLPGMNRPIQVKPADSESRGGSSCLRQPPSQDRKLFVGMLNKQQSEDDVRRLFEAFGNIEECTILRGPDGNSKGCAFVKYSSHAEAQAAIN
ALHGSQTMPGASSSLVVKFADTDKERTMRRMQQMAGQMGMFNPMAIPFGAYGAYAQAMQQQAALMASVAQGGYLNPMAAFAAAQMQQMAALNMNGLAAAPMTPTS
GGSTPPGITAPAVPSIPSPIGVNGFTGLPPQANGQPAAEAVFANGIHPYPAQSPTAADPLQQAYAGVQQYAGPAAYPAAYGQISQAFPQPPPMIPQQQREGPEGC
NLFIYHLPQEFGDAELMQMFLPFGFVSFDNPASAQTAIQAMNGFQIGMKRLKVQLKRPKDANRPY
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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 (1) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gilling, 2008 | Denmark | aCGH | | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
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 |
|---|---|---|---|---|
| Krumm N, 2015 | 2377 | 1373 | 77 | Excess of rare, inherited truncating mutations in autism |
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
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.