Evidence Details for POU6F2
Basic Information Top
| Gene Symbol: | POU6F2 ( RPF-1,WT5,WTSL ) |
|---|---|
| Gene Full Name: | POU class 6 homeobox 2 |
| Band: | 7p14.1 |
| Quick Links | Entrez ID:11281; OMIM: 609062; Uniprot ID:PO6F2_HUMAN; ENSEMBL ID: ENSG00000106536; HGNC ID: 21694 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POU6F2|11281|nucleotide
ATGAGTGCTCTTCTTCAGGATCCAATGATAGCTGGACAAGTCAGTAAGCCCTTGCTGTCAGTGCGGAGTGAAATGAATGCGGAGTTGAGAGGTGAGGACAAGGCT
GCTACTTCAGACAGCGAGCTGAATGAGCCCCTGCTTGCGCCTGTGGAATCAAATGACAGCGAGGACACTCCCAGCAAGCTCTTCGGGGCTAGAGGAAACCCAGCA
TTATCAGACCCAGGCACTCCTGACCAACACCAGGCCAGTCAGACCCACCCCCCATTTCCAGTTGGGCCACAGCCACTTCTGACGGCACAGCAGTTAGCTTCTGCT
GTGGCCGGCGTGATGCCGGGAGGCCCCCCAGCCCTCAACCAGCCAATCCTCATTCCCTTCAACATGGCGGGACAGCTAGGAGGCCAGCAAGGACTGGTTCTCACA
CTGCCAACAGCGAATCTCACCAACATCCAAGGGCTGGTGGCAGCAGCTGCAGCCGGAGGCATTATGACTCTGCCACTGCAAAATCTACAAGCTACCTCATCCCTG
AACTCCCAGCTCCAGCAGCTCCAGCTCCAGCTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCTCCCCCGTCAACCAACCAGCACCCGCAACCAGCCCCACAG
GCGCCCTCGCAGTCCCAGCAGCAGCCGCTGCAGCCCACCCCACCCCAGCAGCCACCACCCGCCTCTCAGCAGCCGCCAGCTCCTACATCTCAGCTGCAACAGGCG
CCTCAGCCCCAGCAGCACCAACCCCACTCCCACTCCCAGAACCAGAACCAACCATCTCCAACCCAGCAGAGCTCCAGCCCCCCGCAGAAACCTAGTCAGTCTCCA
GGACATGGCCTGCCTTCACCGCTCACGCCACCCAATCCTCTACAGCTGGTTAATAATCCACTAGCAAGTCAGGCTGCAGCGGCTGCAGCAGCCATGAGCTCCATA
GCAAGCTCACAGGCCTTTGGCAATGCCCTCTCCAGTCTTCAGGGGGTCACAGGTCAACTAGTTACTAATGCACAAGGACAGATTATCGGGACCATTCCACTGATG
CCTAATCCAGGGCCATCGAGCCAAGCAGCAAGCGGCACTCAGGGCTTGCAAGTGCAGCCAATCACCCCCCAGCTCCTCACAAACGCCCAGGGCCAGATCATCGCC
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ATGAGTGCTCTTCTTCAGGATCCAATGATAGCTGGACAAGTCAGTAAGCCCTTGCTGTCAGTGCGGAGTGAAATGAATGCGGAGTTGAGAGGTGAGGACAAGGCT
GCTACTTCAGACAGCGAGCTGAATGAGCCCCTGCTTGCGCCTGTGGAATCAAATGACAGCGAGGACACTCCCAGCAAGCTCTTCGGGGCTAGAGGAAACCCAGCA
TTATCAGACCCAGGCACTCCTGACCAACACCAGGCCAGTCAGACCCACCCCCCATTTCCAGTTGGGCCACAGCCACTTCTGACGGCACAGCAGTTAGCTTCTGCT
GTGGCCGGCGTGATGCCGGGAGGCCCCCCAGCCCTCAACCAGCCAATCCTCATTCCCTTCAACATGGCGGGACAGCTAGGAGGCCAGCAAGGACTGGTTCTCACA
CTGCCAACAGCGAATCTCACCAACATCCAAGGGCTGGTGGCAGCAGCTGCAGCCGGAGGCATTATGACTCTGCCACTGCAAAATCTACAAGCTACCTCATCCCTG
AACTCCCAGCTCCAGCAGCTCCAGCTCCAGCTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCTCCCCCGTCAACCAACCAGCACCCGCAACCAGCCCCACAG
GCGCCCTCGCAGTCCCAGCAGCAGCCGCTGCAGCCCACCCCACCCCAGCAGCCACCACCCGCCTCTCAGCAGCCGCCAGCTCCTACATCTCAGCTGCAACAGGCG
CCTCAGCCCCAGCAGCACCAACCCCACTCCCACTCCCAGAACCAGAACCAACCATCTCCAACCCAGCAGAGCTCCAGCCCCCCGCAGAAACCTAGTCAGTCTCCA
GGACATGGCCTGCCTTCACCGCTCACGCCACCCAATCCTCTACAGCTGGTTAATAATCCACTAGCAAGTCAGGCTGCAGCGGCTGCAGCAGCCATGAGCTCCATA
GCAAGCTCACAGGCCTTTGGCAATGCCCTCTCCAGTCTTCAGGGGGTCACAGGTCAACTAGTTACTAATGCACAAGGACAGATTATCGGGACCATTCCACTGATG
CCTAATCCAGGGCCATCGAGCCAAGCAGCAAGCGGCACTCAGGGCTTGCAAGTGCAGCCAATCACCCCCCAGCTCCTCACAAACGCCCAGGGCCAGATCATCGCC
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>POU6F2|11281|protein
MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPSKLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASA
VAGVMPGGPPALNQPILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQQLQLQLQQQQQQQQQQPPPSTNQHPQPAPQ
APSQSQQQPLQPTPPQQPPPASQQPPAPTSQLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNPLASQAAAAAAAMSSI
ASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAASGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSV
GQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVNLEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRF
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MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPSKLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASA
VAGVMPGGPPALNQPILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQQLQLQLQQQQQQQQQQPPPSTNQHPQPAPQ
APSQSQQQPLQPTPPQQPPPASQQPPAPTSQLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNPLASQAAAAAAAMSSI
ASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAASGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSV
GQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVNLEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRF
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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 | 2 (4) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 12 (7) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 4
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Anney, 2010_2 | Replication | Illumina Human 1M-single Infinium BeadChip | 595 | 1086 (-) |  | | ASD | - - |
- - | ||
| Anney, 2010_4 | Replication | Illumina Human 1M-single Infinium BeadChip | 476 | 702 (-) | | | ASD | - - |
- - | ||
| Anney, 2010_1 | Discovery | Illumina Human 1M-single Infinium BeadChip | 1369 | 1385 (-) | | | ASD | - - |
- - | ||
| Anney, 2010_3 | Discovery | Illumina Human 1M-single Infinium BeadChip | 897 | 909 (-) | | | 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 | ||||||
| Wolpert, 2001 | - | FISH | |  | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.