Evidence Details for PEX11B
Basic Information Top
| Gene Symbol: | PEX11B ( PEX11-BETA ) |
|---|---|
| Gene Full Name: | peroxisomal biogenesis factor 11 beta |
| Band: | 1q21.1 |
| Quick Links | Entrez ID:8799; OMIM: 603867; Uniprot ID:PX11B_HUMAN; ENSEMBL ID: ENSG00000131779; HGNC ID: 8853 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PEX11B|8799|nucleotide
ATGGGGAAACTGAGGGCCGCCCAGTATGCTTGCTCTCTTCTTGGCCATGCGCTGCAGAGGCATGGAGCCAGTCCTGAGTTACAGAAACAGATTCGACAACTGGAG
AGCCACCTGAGCCTTGGAAGAAAGCTTCTACGCCTGGGTAACTCAGCAGATGCCCTTGAGTCAGCCAAAAGAGCTGTTCACCTATCAGATGTTGTCCTGAGATTC
TGCATCACTGTTAGTCACCTCAATCGAGCCTTGTACTTCGCCTGTGACAATGTCCTGTGGGCTGGAAAGTCTGGACTGGCTCCCCGTGTGGATCAGGAGAAGTGG
GCCCAGCGTTCATTCAGGTACTATTTGTTTTCCCTCATCATGAATTTGAGCCGTGATGCTTATGAGATTCGCCTACTGATGGAGCAAGAGTCTTCTGCTTGTAGC
CGGCGACTGAAAGGTTCTGGAGGAGGAGTCCCAGGAGGAAGTGAAACTGGGGGACTTGGGGGACCAGGGACTCCAGGAGGAGGTCTGCCCCAACTGGCTCTGAAA
CTTCGGCTGCAAGTCCTGCTCCTGGCTCGAGTCCTTAGAGGTCATCCCCCACTTCTGCTAGACGTGGTCAGAAATGCCTGTGATCTCTTCATTCCTCTGGACAAA
CTAGGCCTCTGGCGCTGTGGCCCTGGGATTGTGGGGCTTTGTGGCCTCGTGTCCTCCATCCTGTCTATTCTCACCCTAATCTATCCCTGGCTACGACTCAAGCCC
TGA
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ATGGGGAAACTGAGGGCCGCCCAGTATGCTTGCTCTCTTCTTGGCCATGCGCTGCAGAGGCATGGAGCCAGTCCTGAGTTACAGAAACAGATTCGACAACTGGAG
AGCCACCTGAGCCTTGGAAGAAAGCTTCTACGCCTGGGTAACTCAGCAGATGCCCTTGAGTCAGCCAAAAGAGCTGTTCACCTATCAGATGTTGTCCTGAGATTC
TGCATCACTGTTAGTCACCTCAATCGAGCCTTGTACTTCGCCTGTGACAATGTCCTGTGGGCTGGAAAGTCTGGACTGGCTCCCCGTGTGGATCAGGAGAAGTGG
GCCCAGCGTTCATTCAGGTACTATTTGTTTTCCCTCATCATGAATTTGAGCCGTGATGCTTATGAGATTCGCCTACTGATGGAGCAAGAGTCTTCTGCTTGTAGC
CGGCGACTGAAAGGTTCTGGAGGAGGAGTCCCAGGAGGAAGTGAAACTGGGGGACTTGGGGGACCAGGGACTCCAGGAGGAGGTCTGCCCCAACTGGCTCTGAAA
CTTCGGCTGCAAGTCCTGCTCCTGGCTCGAGTCCTTAGAGGTCATCCCCCACTTCTGCTAGACGTGGTCAGAAATGCCTGTGATCTCTTCATTCCTCTGGACAAA
CTAGGCCTCTGGCGCTGTGGCCCTGGGATTGTGGGGCTTTGTGGCCTCGTGTCCTCCATCCTGTCTATTCTCACCCTAATCTATCCCTGGCTACGACTCAAGCCC
TGA
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>PEX11B|8799|protein
MGKLRAAQYACSLLGHALQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDVVLRFCITVSHLNRALYFACDNVLWAGKSGLAPRVDQEKW
AQRSFRYYLFSLIMNLSRDAYEIRLLMEQESSACSRRLKGSGGGVPGGSETGGLGGPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDK
LGLWRCGPGIVGLCGLVSSILSILTLIYPWLRLKP
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MGKLRAAQYACSLLGHALQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDVVLRFCITVSHLNRALYFACDNVLWAGKSGLAPRVDQEKW
AQRSFRYYLFSLIMNLSRDAYEIRLLMEQESSACSRRLKGSGGGVPGGSETGGLGGPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDK
LGLWRCGPGIVGLCGLVSSILSILTLIYPWLRLKP
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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 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top