Evidence Details for CELF5
Basic Information Top
| Gene Symbol: | CELF5 ( BRUNOL-5,BRUNOL5 ) |
|---|---|
| Gene Full Name: | CUGBP, Elav-like family member 5 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:60680; OMIM: 612680; Uniprot ID:CELF5_HUMAN; ENSEMBL ID: ENSG00000161082; HGNC ID: 14058 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CELF5|60680|nucleotide
ATGGCCCGCCTGACGGAGAGCGAGGCGCGCCGGCAGCAGCAGCAGCTCCTGCAGCCGCGGCCCTCGCCCGTGGGCAGCAGCGGGCCCGAGCCCCCCGGGGGGCAG
CCCGACGGCATGAAGGACCTGGACGCCATCAAACTCTTCGTGGGCCAGATCCCGCGGCACCTGGACGAGAAGGACCTCAAGCCGCTCTTCGAGCAGTTCGGCCGC
ATCTACGAGCTCACGGTGCTCAAAGACCCCTACACGGGGATGCACAAAGGCTGTGCCTTCCTCACCTACTGTGCCAGGGATTCCGCCATCAAAGCTCAGACTGCC
CTGCACGAGCAGAAGACCTTGCCCGGAATGGCGCGGCCAATCCAGGTGAAGCCTGCGGACAGTGAAAGCCGCGGAGGTAGGGACCGGAAGCTGTTCGTGGGGATG
CTGAACAAGCAGCAGTCGGAGGAGGACGTGCTGCGGCTGTTCCAGCCCTTCGGGGTCATTGACGAGTGCACCGTGCTCCGGGGGCCTGACGGCAGCAGCAAAGGC
TGTGCTTTCGTGAAGTTCTCCTCCCACACGGAGGCGCAGGCGGCCATCCACGCCTTGCATGGGAGCCAGACCATGCCGGGAGCCTCCTCCAGCCTGGTGGTCAAG
TTCGCCGACACGGACAAGGAGCGGACGCTCCGGCGCATGCAGCAGATGGTGGGCCAGCTGGGCATCCTGACGCCGTCCCTCACATTGCCCTTCAGCCCCTACAGT
GCCTACGCCCAGGCTCTCATGCAACAGCAGACAACAGTCCTGTCCACCTCGGGCAGCTACCTGAGTCCCGGCGTGGCCTTCTCACCCTGTCACATCCAGCAGATA
GGCGCCGTCAGCCTCAACGGGCTGCCTGCCACACCCATCGCTCCTGCCTCTGGTGTCGTGCCCTTTCCAGGTGGGCACCCTGCCCTGGAAACCGTCTATGCCAAT
GGCCTTGTGCCCTACCCAGCTCAGAGCCCGACTGTGGCCGAGACACTGCATCCTGCCTTCTCCGGAGTCCAGCAGTACACAGCCATGTACCCCACCGCGGCCATC
ACGCCCATCGCGCACAGCGTCCCCCAGCCGCCGCCCCTCCTGCAGCAGCAGCAGCGAGAAGGAGTTTGGAGACACGGAGCTGACGCAGATGTTCCTACCCTTCGG
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ATGGCCCGCCTGACGGAGAGCGAGGCGCGCCGGCAGCAGCAGCAGCTCCTGCAGCCGCGGCCCTCGCCCGTGGGCAGCAGCGGGCCCGAGCCCCCCGGGGGGCAG
CCCGACGGCATGAAGGACCTGGACGCCATCAAACTCTTCGTGGGCCAGATCCCGCGGCACCTGGACGAGAAGGACCTCAAGCCGCTCTTCGAGCAGTTCGGCCGC
ATCTACGAGCTCACGGTGCTCAAAGACCCCTACACGGGGATGCACAAAGGCTGTGCCTTCCTCACCTACTGTGCCAGGGATTCCGCCATCAAAGCTCAGACTGCC
CTGCACGAGCAGAAGACCTTGCCCGGAATGGCGCGGCCAATCCAGGTGAAGCCTGCGGACAGTGAAAGCCGCGGAGGTAGGGACCGGAAGCTGTTCGTGGGGATG
CTGAACAAGCAGCAGTCGGAGGAGGACGTGCTGCGGCTGTTCCAGCCCTTCGGGGTCATTGACGAGTGCACCGTGCTCCGGGGGCCTGACGGCAGCAGCAAAGGC
TGTGCTTTCGTGAAGTTCTCCTCCCACACGGAGGCGCAGGCGGCCATCCACGCCTTGCATGGGAGCCAGACCATGCCGGGAGCCTCCTCCAGCCTGGTGGTCAAG
TTCGCCGACACGGACAAGGAGCGGACGCTCCGGCGCATGCAGCAGATGGTGGGCCAGCTGGGCATCCTGACGCCGTCCCTCACATTGCCCTTCAGCCCCTACAGT
GCCTACGCCCAGGCTCTCATGCAACAGCAGACAACAGTCCTGTCCACCTCGGGCAGCTACCTGAGTCCCGGCGTGGCCTTCTCACCCTGTCACATCCAGCAGATA
GGCGCCGTCAGCCTCAACGGGCTGCCTGCCACACCCATCGCTCCTGCCTCTGGTGTCGTGCCCTTTCCAGGTGGGCACCCTGCCCTGGAAACCGTCTATGCCAAT
GGCCTTGTGCCCTACCCAGCTCAGAGCCCGACTGTGGCCGAGACACTGCATCCTGCCTTCTCCGGAGTCCAGCAGTACACAGCCATGTACCCCACCGCGGCCATC
ACGCCCATCGCGCACAGCGTCCCCCAGCCGCCGCCCCTCCTGCAGCAGCAGCAGCGAGAAGGAGTTTGGAGACACGGAGCTGACGCAGATGTTCCTACCCTTCGG
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>CELF5|60680|protein
MARLTESEARRQQQQLLQPRPSPVGSSGPEPPGGQPDGMKDLDAIKLFVGQIPRHLDEKDLKPLFEQFGRIYELTVLKDPYTGMHKGCAFLTYCARDSAIKAQTA
LHEQKTLPGMARPIQVKPADSESRGGRDRKLFVGMLNKQQSEEDVLRLFQPFGVIDECTVLRGPDGSSKGCAFVKFSSHTEAQAAIHALHGSQTMPGASSSLVVK
FADTDKERTLRRMQQMVGQLGILTPSLTLPFSPYSAYAQALMQQQTTVLSTSGSYLSPGVAFSPCHIQQIGAVSLNGLPATPIAPASGVVPFPGGHPALETVYAN
GLVPYPAQSPTVAETLHPAFSGVQQYTAMYPTAAITPIAHSVPQPPPLLQQQQREGVWRHGADADVPTLRQYHFLQGVYGSSYQPEQVFRLREL
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MARLTESEARRQQQQLLQPRPSPVGSSGPEPPGGQPDGMKDLDAIKLFVGQIPRHLDEKDLKPLFEQFGRIYELTVLKDPYTGMHKGCAFLTYCARDSAIKAQTA
LHEQKTLPGMARPIQVKPADSESRGGRDRKLFVGMLNKQQSEEDVLRLFQPFGVIDECTVLRGPDGSSKGCAFVKFSSHTEAQAAIHALHGSQTMPGASSSLVVK
FADTDKERTLRRMQQMVGQLGILTPSLTLPFSPYSAYAQALMQQQTTVLSTSGSYLSPGVAFSPCHIQQIGAVSLNGLPATPIAPASGVVPFPGGHPALETVYAN
GLVPYPAQSPTVAETLHPAFSGVQQYTAMYPTAAITPIAHSVPQPPPLLQQQQREGVWRHGADADVPTLRQYHFLQGVYGSSYQPEQVFRLREL
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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 | 1 (1) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 7 (4) |
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) |
||||||
| MIXED/OTHERS | |||||||||||
| Connolly S, 2017_2 | - | Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M | 2591 | - (-) |  | | 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 | ||||||
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen | | | autism | 222 | - | 222 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | | | autism with nonaffected sib pairs | autism | 17 (-) |
0.94 | Down | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.