Evidence Details for PPEF1
Basic Information Top
| Gene Symbol: | PPEF1 ( PP7,PPEF,PPP7C,PPP7CA ) |
|---|---|
| Gene Full Name: | protein phosphatase, EF-hand calcium binding domain 1 |
| Band: | Xp22.13 |
| Quick Links | Entrez ID:5475; OMIM: 300109; Uniprot ID:PPE1_HUMAN; ENSEMBL ID: ENSG00000086717; HGNC ID: 9243 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PPEF1|5475|nucleotide
ATGGGATGCAGCAGTTCTTCAACGAAAACCAGGAGATCTGACACATCACTGAGAGCTGCGTTGATCATCCAGAACTGGTACCGAGGTTACAAAGCTCGACTGAAG
GCCAGACAACACTATGCCCTCACCATCTTCCAGTCCATCGAATATGCTGATGAACAAGGCCAAATGCAGTTATCCACCTTCTTTTCCTTCATGTTGGAAAACTAC
ACACATATACATAAGGAAGAGCTAGAATTAAGAAATCAGTCTCTTGAAAGCGAACAGGACATGAGGGATAGATGGGATTATGTGGACTCGATAGATGTCCCAGAC
TCCTATAATGGTCCTCGGCTACAATTTCCTCTCACTTGTACGGATATTGATTTACTTCTTGAGGCCTTCAAGGAACAACAGATACTTCATGCCCATTATGTCTTA
GAGGTGCTATTTGAAACCAAGAAAGTCCTGAAGCAAATGCCGAATTTCACTCACATACAAACTTCTCCCTCCAAAGAGGTAACAATCTGTGGTGATTTGCATGGG
AAACTGGATGATCTTTTTTTGATCTTCTACAAGAATGGTCTCCCCTCAGAGAGGAACCCGTATGTTTTTAATGGTGACTTTGTAGATCGAGGAAAGAATTCCATA
GAGATCCTAATGATCCTGTGTGTGAGTTTTCTTGTCTACCCCAATGACCTGCACTTGAACAGAGGGAACCACGAAGATTTTATGATGAATCTGAGGTATGGCTTC
ACGAAAGAAATTTTGCATAAATATAAGCTACATGGAAAAAGAATCTTACAAATCTTGGAAGAATTCTATGCCTGGCTCCCAATCGGTACAATCGTTGACAATGAA
ATCCTGGTCATCCATGGTGGGATATCAGAGACCACAGACTTGAATTTACTCCACCGTGTAGAGAGGAACAAGATGAAATCTGTGCTGATACCACCAACGGAAACA
AACAGAGACCATGACACTGACTCGAAGCACAATAAAGTAGGTGTGACTTTTAATGCACATGGAAGAATCAAAACAAATGGATCTCCTACTGAACACTTAACAGAG
CATGAATGGGAACAGATTATTGATATTCTGTGGAGTGATCCCAGAGGCAAAAATGGCTGTTTTCCAAATACGTGCCGAGGAGGGGGCTGCTATTTTGGACCAGAT
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ATGGGATGCAGCAGTTCTTCAACGAAAACCAGGAGATCTGACACATCACTGAGAGCTGCGTTGATCATCCAGAACTGGTACCGAGGTTACAAAGCTCGACTGAAG
GCCAGACAACACTATGCCCTCACCATCTTCCAGTCCATCGAATATGCTGATGAACAAGGCCAAATGCAGTTATCCACCTTCTTTTCCTTCATGTTGGAAAACTAC
ACACATATACATAAGGAAGAGCTAGAATTAAGAAATCAGTCTCTTGAAAGCGAACAGGACATGAGGGATAGATGGGATTATGTGGACTCGATAGATGTCCCAGAC
TCCTATAATGGTCCTCGGCTACAATTTCCTCTCACTTGTACGGATATTGATTTACTTCTTGAGGCCTTCAAGGAACAACAGATACTTCATGCCCATTATGTCTTA
GAGGTGCTATTTGAAACCAAGAAAGTCCTGAAGCAAATGCCGAATTTCACTCACATACAAACTTCTCCCTCCAAAGAGGTAACAATCTGTGGTGATTTGCATGGG
AAACTGGATGATCTTTTTTTGATCTTCTACAAGAATGGTCTCCCCTCAGAGAGGAACCCGTATGTTTTTAATGGTGACTTTGTAGATCGAGGAAAGAATTCCATA
GAGATCCTAATGATCCTGTGTGTGAGTTTTCTTGTCTACCCCAATGACCTGCACTTGAACAGAGGGAACCACGAAGATTTTATGATGAATCTGAGGTATGGCTTC
ACGAAAGAAATTTTGCATAAATATAAGCTACATGGAAAAAGAATCTTACAAATCTTGGAAGAATTCTATGCCTGGCTCCCAATCGGTACAATCGTTGACAATGAA
ATCCTGGTCATCCATGGTGGGATATCAGAGACCACAGACTTGAATTTACTCCACCGTGTAGAGAGGAACAAGATGAAATCTGTGCTGATACCACCAACGGAAACA
AACAGAGACCATGACACTGACTCGAAGCACAATAAAGTAGGTGTGACTTTTAATGCACATGGAAGAATCAAAACAAATGGATCTCCTACTGAACACTTAACAGAG
CATGAATGGGAACAGATTATTGATATTCTGTGGAGTGATCCCAGAGGCAAAAATGGCTGTTTTCCAAATACGTGCCGAGGAGGGGGCTGCTATTTTGGACCAGAT
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>PPEF1|5475|protein
MGCSSSSTKTRRSDTSLRAALIIQNWYRGYKARLKARQHYALTIFQSIEYADEQGQMQLSTFFSFMLENYTHIHKEELELRNQSLESEQDMRDRWDYVDSIDVPD
SYNGPRLQFPLTCTDIDLLLEAFKEQQILHAHYVLEVLFETKKVLKQMPNFTHIQTSPSKEVTICGDLHGKLDDLFLIFYKNGLPSERNPYVFNGDFVDRGKNSI
EILMILCVSFLVYPNDLHLNRGNHEDFMMNLRYGFTKEILHKYKLHGKRILQILEEFYAWLPIGTIVDNEILVIHGGISETTDLNLLHRVERNKMKSVLIPPTET
NRDHDTDSKHNKVGVTFNAHGRIKTNGSPTEHLTEHEWEQIIDILWSDPRGKNGCFPNTCRGGGCYFGPDVTSKILNKYQLKMLIRSHECKPEGYEICHDGKVVT
IFSASNYYEEGSNRGAYIKLCSGTTPRFFQYQVTKATCFQPLRQRVDTMENSAIKILRERVISRKSDLTRAFQLQDHRKSGKLSVSQWAFCMENILGLNLPWRSL
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MGCSSSSTKTRRSDTSLRAALIIQNWYRGYKARLKARQHYALTIFQSIEYADEQGQMQLSTFFSFMLENYTHIHKEELELRNQSLESEQDMRDRWDYVDSIDVPD
SYNGPRLQFPLTCTDIDLLLEAFKEQQILHAHYVLEVLFETKKVLKQMPNFTHIQTSPSKEVTICGDLHGKLDDLFLIFYKNGLPSERNPYVFNGDFVDRGKNSI
EILMILCVSFLVYPNDLHLNRGNHEDFMMNLRYGFTKEILHKYKLHGKRILQILEEFYAWLPIGTIVDNEILVIHGGISETTDLNLLHRVERNKMKSVLIPPTET
NRDHDTDSKHNKVGVTFNAHGRIKTNGSPTEHLTEHEWEQIIDILWSDPRGKNGCFPNTCRGGGCYFGPDVTSKILNKYQLKMLIRSHECKPEGYEICHDGKVVT
IFSASNYYEEGSNRGAYIKLCSGTTPRFFQYQVTKATCFQPLRQRVDTMENSAIKILRERVISRKSDLTRAFQLQDHRKSGKLSVSQWAFCMENILGLNLPWRSL
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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 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top