Evidence Details for PUM2
Basic Information Top
| Gene Symbol: | PUM2 ( FLJ36528,KIAA0235,MGC138251,MGC138253,PUMH2,PUML2 ) |
|---|---|
| Gene Full Name: | pumilio homolog 2 (Drosophila) |
| Band: | 2p24.1 |
| Quick Links | Entrez ID:23369; OMIM: 607205; Uniprot ID:PUM2_HUMAN; ENSEMBL ID: ENSG00000055917; HGNC ID: 14958 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PUM2|23369|nucleotide
ATGAATCATGATTTTCAAGCTCTTGCATTAGAATCTCGGGGAATGGGAGAGCTTTTGCCTACCAAAAAGTTTTGGGAACCTGATGATTCAACAAAAGATGGACAA
AAAGGCATATTTCTTGGGGATGATGAATGGAGAGAGACTGCATGGGGAGCTTCTCACCATTCAATGTCCCAGCCTATTATGGTACAGAGAAGATCTGGACAGGGT
TTTCATGGAAACAGTGAAGTAAATGCAATACTGTCTCCGCGATCAGAAAGTGGAGGCCTTGGTGTGAGCATGGTAGAATATGTATTAAGTTCTTCTCCTGCTGAT
AAATTGGATTCTCGATTTAGGAAGGGAAATTTTGGCACTAGAGATGCTGAAACAGATGGACCTGAGAAAGGAGATCAAAAAGGCAAGGCTTCTCCATTTGAGGAG
GACCAAAACAGAGATCTTAAACAAGGAGATGATGATGATTCTAAAATAAATGGCAGAGGTTTGCCAAATGGAATGGATGCCGATTGCAAAGATTTTAATCGTACT
CCTGGAAGTCGTCAAGCCTCTCCAACTGAAGTAGTTGAGCGCTTGGGCCCCAATACTAATCCCTCAGAAGGACTGGGGCCTCTTCCTAATCCTACAGCTAATAAA
CCACTTGTTGAAGAATTTTCAAATCCTGAAACTCAGAATCTGGATGCCATGGAACAAGTTGGTCTGGAATCCTTACAGTTTGACTATCCTGGTAATCAGGTACCA
ATGGACTCTTCAGGAGCTACTGTAGGCCTTTTTGACTACAATTCCCAGCAGCAGCTCTTTCAGAGGACTAATGCACTAACAGTTCAACAGTTAACTGCAGCTCAA
CAGCAGCAATATGCATTAGCAGCAGCTCAGCAGCCACATATAGCTGGTGTATTCTCAGCAGGCCTTGCTCCAGCTGCATTTGTGCCAAATCCATACATTATTAGT
GCTGCTCCTCCAGGGACCGATCCGTATACTGCAGCAGGATTGGCTGCAGCAGCTACATTAGCAGGTCCAGCAGTGGTTCCACCTCAGTATTACGGCGTTCCATGG
GGGGTGTATCCAGCCAACTTATTTCAGCAGCAAGCTGCAGCTGCGGCAAATAACACAGCCAGTCAGCAAGCAGCATCACAAGCTCAGCCTGGACAGCAACAGGTT
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ATGAATCATGATTTTCAAGCTCTTGCATTAGAATCTCGGGGAATGGGAGAGCTTTTGCCTACCAAAAAGTTTTGGGAACCTGATGATTCAACAAAAGATGGACAA
AAAGGCATATTTCTTGGGGATGATGAATGGAGAGAGACTGCATGGGGAGCTTCTCACCATTCAATGTCCCAGCCTATTATGGTACAGAGAAGATCTGGACAGGGT
TTTCATGGAAACAGTGAAGTAAATGCAATACTGTCTCCGCGATCAGAAAGTGGAGGCCTTGGTGTGAGCATGGTAGAATATGTATTAAGTTCTTCTCCTGCTGAT
AAATTGGATTCTCGATTTAGGAAGGGAAATTTTGGCACTAGAGATGCTGAAACAGATGGACCTGAGAAAGGAGATCAAAAAGGCAAGGCTTCTCCATTTGAGGAG
GACCAAAACAGAGATCTTAAACAAGGAGATGATGATGATTCTAAAATAAATGGCAGAGGTTTGCCAAATGGAATGGATGCCGATTGCAAAGATTTTAATCGTACT
CCTGGAAGTCGTCAAGCCTCTCCAACTGAAGTAGTTGAGCGCTTGGGCCCCAATACTAATCCCTCAGAAGGACTGGGGCCTCTTCCTAATCCTACAGCTAATAAA
CCACTTGTTGAAGAATTTTCAAATCCTGAAACTCAGAATCTGGATGCCATGGAACAAGTTGGTCTGGAATCCTTACAGTTTGACTATCCTGGTAATCAGGTACCA
ATGGACTCTTCAGGAGCTACTGTAGGCCTTTTTGACTACAATTCCCAGCAGCAGCTCTTTCAGAGGACTAATGCACTAACAGTTCAACAGTTAACTGCAGCTCAA
CAGCAGCAATATGCATTAGCAGCAGCTCAGCAGCCACATATAGCTGGTGTATTCTCAGCAGGCCTTGCTCCAGCTGCATTTGTGCCAAATCCATACATTATTAGT
GCTGCTCCTCCAGGGACCGATCCGTATACTGCAGCAGGATTGGCTGCAGCAGCTACATTAGCAGGTCCAGCAGTGGTTCCACCTCAGTATTACGGCGTTCCATGG
GGGGTGTATCCAGCCAACTTATTTCAGCAGCAAGCTGCAGCTGCGGCAAATAACACAGCCAGTCAGCAAGCAGCATCACAAGCTCAGCCTGGACAGCAACAGGTT
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>PUM2|23369|protein
MNHDFQALALESRGMGELLPTKKFWEPDDSTKDGQKGIFLGDDEWRETAWGASHHSMSQPIMVQRRSGQGFHGNSEVNAILSPRSESGGLGVSMVEYVLSSSPAD
KLDSRFRKGNFGTRDAETDGPEKGDQKGKASPFEEDQNRDLKQGDDDDSKINGRGLPNGMDADCKDFNRTPGSRQASPTEVVERLGPNTNPSEGLGPLPNPTANK
PLVEEFSNPETQNLDAMEQVGLESLQFDYPGNQVPMDSSGATVGLFDYNSQQQLFQRTNALTVQQLTAAQQQQYALAAAQQPHIAGVFSAGLAPAAFVPNPYIIS
AAPPGTDPYTAAGLAAAATLAGPAVVPPQYYGVPWGVYPANLFQQQAAAAANNTASQQAASQAQPGQQQVLRAGAGQRPLTPNQGQQGQQAESLAAAAAANPTLA
FGQGLATGMPGYQVLAPTAYYDQTGALVVGPGARTGLGAPVRLMAPTPVLISSAAAQAAAAAAAGGTASSLTGSTNGLFRPIGTQPPQQQQQQPSTNLQSNSFYG
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MNHDFQALALESRGMGELLPTKKFWEPDDSTKDGQKGIFLGDDEWRETAWGASHHSMSQPIMVQRRSGQGFHGNSEVNAILSPRSESGGLGVSMVEYVLSSSPAD
KLDSRFRKGNFGTRDAETDGPEKGDQKGKASPFEEDQNRDLKQGDDDDSKINGRGLPNGMDADCKDFNRTPGSRQASPTEVVERLGPNTNPSEGLGPLPNPTANK
PLVEEFSNPETQNLDAMEQVGLESLQFDYPGNQVPMDSSGATVGLFDYNSQQQLFQRTNALTVQQLTAAQQQQYALAAAQQPHIAGVFSAGLAPAAFVPNPYIIS
AAPPGTDPYTAAGLAAAATLAGPAVVPPQYYGVPWGVYPANLFQQQAAAAANNTASQQAASQAQPGQQQVLRAGAGQRPLTPNQGQQGQQAESLAAAAAANPTLA
FGQGLATGMPGYQVLAPTAYYDQTGALVVGPGARTGLGAPVRLMAPTPVLISSAAAQAAAAAAAGGTASSLTGSTNGLFRPIGTQPPQQQQQQPSTNLQSNSFYG
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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 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (2) |
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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.