Evidence Details for PHF21B
Basic Information Top
| Gene Symbol: | PHF21B ( BHC80L,FLJ34161,PHF4 ) |
|---|---|
| Gene Full Name: | PHD finger protein 21B |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:112885; OMIM: NA; Uniprot ID:PF21B_HUMAN; ENSEMBL ID: ENSG00000056487; HGNC ID: 25161 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PHF21B|112885|nucleotide
ATGGAGCTGCAGAGCCGGCCCGAGGCGCTCGCCGTGGAACTCGCGCGCCACCAGAACGGCGACCTCAAGAAGCAGCTCCACGAAAGGCAGCCGCGGATCGCCGCG
CTCAGCGACAAACAAGCTTTGGGAACGATCACTGCAGTGCCTGTCACGGGTCCTCAGGTCAGCTCCTTGCAGAGGTTGGCCGGGCAAGGAGCGGCAGTGCTACCT
CAGGTTAGGCCAAAGACTCTGATTCCAGACAGCCTCCCCGTTGCCCCGGGCCGGGACCGGCCACCCAAGCAGCCCCCAACATTCCAGAAGGCCACCGTGGTCAGC
GTCAAGAACCCCAGCCCAGCCCTCCCCACCGCCAACAACACTGTCAGCCATGTGCCAGCGCCCGGCAGCCAGCCCCAGGCCCTCGCCGAGCCCGCCGCCCTCGCC
TCTCCGCTGAGCAGTGCGGGGGTGGCCTACGCCATCATCTCCACCTCCCCCAGCAATGCCGCCGCCATGGCCCCCAGCACCGCCGTGTCTGTGGTCAGTGACAGC
ATCAAAGTCCAGCCCCTCCTCATCAGTGCTGACAACAAGGTCATCATCATTCAGCCTCAAGTGCAGACGCAGCCCGAGAGCACGGCAGAGTCGCGGCCGCCCACA
GAGGAGCCATCTCAGGGAGCTCAGGCCACCAAAAAGAAGAAGGAAGACCGGCCCCCGACCCAGGAGAACCCCGAGAAAATCGCCTTCATGGTAGCGCTAGGCCTG
GTTACCACGGAACATTTGGAAGAAATCCAGAGCAAGCGACAGGAGCGGAAGAGAAGAAGCACAGCCAACCCTGCCTACAGCGGCCTCCTGGAGACCGAGAGGAAA
CGGCTGGCCTCCAACTATCTCAACAACCCCCTGTTCCTCACAGCGAGAGCCAATGAGGACCCCTGCTGGAAGAACGAGATCACCCACGATGAGCACTGTGCCGCC
TGCAAGCGAGGGGCCAACCTGCAGCCCTGCGGCACCTGCCCGGGGGCCTACCACCTCAGCTGCCTGGAGCCGCCCCTCAAGACGGCGCCCAAGGGCGTGTGGGTG
TGCCCCAGGTGCCAGCAGAAGGCCTTAAAGAAAGACGAGGGTGTGCCCTGGACTGGGATGCTGGCCATCGTGCACTCTTATGTCACCCACAAGACAGTCAAAGAA
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ATGGAGCTGCAGAGCCGGCCCGAGGCGCTCGCCGTGGAACTCGCGCGCCACCAGAACGGCGACCTCAAGAAGCAGCTCCACGAAAGGCAGCCGCGGATCGCCGCG
CTCAGCGACAAACAAGCTTTGGGAACGATCACTGCAGTGCCTGTCACGGGTCCTCAGGTCAGCTCCTTGCAGAGGTTGGCCGGGCAAGGAGCGGCAGTGCTACCT
CAGGTTAGGCCAAAGACTCTGATTCCAGACAGCCTCCCCGTTGCCCCGGGCCGGGACCGGCCACCCAAGCAGCCCCCAACATTCCAGAAGGCCACCGTGGTCAGC
GTCAAGAACCCCAGCCCAGCCCTCCCCACCGCCAACAACACTGTCAGCCATGTGCCAGCGCCCGGCAGCCAGCCCCAGGCCCTCGCCGAGCCCGCCGCCCTCGCC
TCTCCGCTGAGCAGTGCGGGGGTGGCCTACGCCATCATCTCCACCTCCCCCAGCAATGCCGCCGCCATGGCCCCCAGCACCGCCGTGTCTGTGGTCAGTGACAGC
ATCAAAGTCCAGCCCCTCCTCATCAGTGCTGACAACAAGGTCATCATCATTCAGCCTCAAGTGCAGACGCAGCCCGAGAGCACGGCAGAGTCGCGGCCGCCCACA
GAGGAGCCATCTCAGGGAGCTCAGGCCACCAAAAAGAAGAAGGAAGACCGGCCCCCGACCCAGGAGAACCCCGAGAAAATCGCCTTCATGGTAGCGCTAGGCCTG
GTTACCACGGAACATTTGGAAGAAATCCAGAGCAAGCGACAGGAGCGGAAGAGAAGAAGCACAGCCAACCCTGCCTACAGCGGCCTCCTGGAGACCGAGAGGAAA
CGGCTGGCCTCCAACTATCTCAACAACCCCCTGTTCCTCACAGCGAGAGCCAATGAGGACCCCTGCTGGAAGAACGAGATCACCCACGATGAGCACTGTGCCGCC
TGCAAGCGAGGGGCCAACCTGCAGCCCTGCGGCACCTGCCCGGGGGCCTACCACCTCAGCTGCCTGGAGCCGCCCCTCAAGACGGCGCCCAAGGGCGTGTGGGTG
TGCCCCAGGTGCCAGCAGAAGGCCTTAAAGAAAGACGAGGGTGTGCCCTGGACTGGGATGCTGGCCATCGTGCACTCTTATGTCACCCACAAGACAGTCAAAGAA
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>PHF21B|112885|protein
MELQSRPEALAVELARHQNGDLKKQLHERQPRIAALSDKQALGTITAVPVTGPQVSSLQRLAGQGAAVLPQVRPKTLIPDSLPVAPGRDRPPKQPPTFQKATVVS
VKNPSPALPTANNTVSHVPAPGSQPQALAEPAALASPLSSAGVAYAIISTSPSNAAAMAPSTAVSVVSDSIKVQPLLISADNKVIIIQPQVQTQPESTAESRPPT
EEPSQGAQATKKKKEDRPPTQENPEKIAFMVALGLVTTEHLEEIQSKRQERKRRSTANPAYSGLLETERKRLASNYLNNPLFLTARANEDPCWKNEITHDEHCAA
CKRGANLQPCGTCPGAYHLSCLEPPLKTAPKGVWVCPRCQQKALKKDEGVPWTGMLAIVHSYVTHKTVKEEEKQKLLQRGSELQNEHQQLEERDRRLASAVQKCL
ELKTSLLARQRGTQSSLDRLRALLRLIQGEQLLQVTMTTTSPAPLLAGPWTKPSVAATHPTVQHPQGHN
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MELQSRPEALAVELARHQNGDLKKQLHERQPRIAALSDKQALGTITAVPVTGPQVSSLQRLAGQGAAVLPQVRPKTLIPDSLPVAPGRDRPPKQPPTFQKATVVS
VKNPSPALPTANNTVSHVPAPGSQPQALAEPAALASPLSSAGVAYAIISTSPSNAAAMAPSTAVSVVSDSIKVQPLLISADNKVIIIQPQVQTQPESTAESRPPT
EEPSQGAQATKKKKEDRPPTQENPEKIAFMVALGLVTTEHLEEIQSKRQERKRRSTANPAYSGLLETERKRLASNYLNNPLFLTARANEDPCWKNEITHDEHCAA
CKRGANLQPCGTCPGAYHLSCLEPPLKTAPKGVWVCPRCQQKALKKDEGVPWTGMLAIVHSYVTHKTVKEEEKQKLLQRGSELQNEHQQLEERDRRLASAVQKCL
ELKTSLLARQRGTQSSLDRLRALLRLIQGEQLLQVTMTTTSPAPLLAGPWTKPSVAATHPTVQHPQGHN
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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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top