Evidence Details for PPIC
Basic Information Top
Gene Symbol: | PPIC ( CYPC,MGC3673 ) |
---|---|
Gene Full Name: | peptidylprolyl isomerase C (cyclophilin C) |
Band: | 5q23.2 |
Quick Links | Entrez ID:5480; OMIM: 123842; Uniprot ID:PPIC_HUMAN; ENSEMBL ID: ENSG00000168938; HGNC ID: 9256 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PPIC|5480|nucleotide
ATGGGCCCGGGTCCTCGGCTGCTGCTACCTCTCGTGCTTTGCGTGGGGCTCGGCGCACTTGTGTTTTCTTCGGGGGCCGAGGGCTTCCGCAAGCGAGGCCCCTCG
GTGACGGCCAAGGTCTTCTTTGATGTGAGGATTGGAGACAAAGATGTTGGCAGAATTGTGATTGGCCTCTTTGGAAAAGTTGTGCCCAAGACAGTGGAAAATTTT
GTTGCTCTAGCAACAGGAGAGAAAGGATATGGATATAAAGGAAGCAAGTTTCATCGTGTCATCAAGGATTTCATGATTCAAGGAGGTGACATCACCACTGGAGAT
GGCACTGGGGGTGTGAGCATCTATGGTGAGACATTTCCAGATGAGAACTTCAAGCTGAAGCACTATGGCATTGGGTGGGTCAGCATGGCCAACGCTGGGCCTGAC
ACCAATGGCTCTCAGTTCTTTATCACCTTGACCAAGCCCACCTGGTTGGACGGCAAACATGTGGTGTTTGGAAAAGTCATTGATGGGATGACAGTGGTGCACTCC
ATAGAGCTCCAAGCAACTGATGGGCATGACCGTCCACTCACCAACTGCTCGATCATCAACAGTGGCAAGATAGACGTGAAAACGCCTTTTGTGGTTGAGATCGCT
GATTGGTGA
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ATGGGCCCGGGTCCTCGGCTGCTGCTACCTCTCGTGCTTTGCGTGGGGCTCGGCGCACTTGTGTTTTCTTCGGGGGCCGAGGGCTTCCGCAAGCGAGGCCCCTCG
GTGACGGCCAAGGTCTTCTTTGATGTGAGGATTGGAGACAAAGATGTTGGCAGAATTGTGATTGGCCTCTTTGGAAAAGTTGTGCCCAAGACAGTGGAAAATTTT
GTTGCTCTAGCAACAGGAGAGAAAGGATATGGATATAAAGGAAGCAAGTTTCATCGTGTCATCAAGGATTTCATGATTCAAGGAGGTGACATCACCACTGGAGAT
GGCACTGGGGGTGTGAGCATCTATGGTGAGACATTTCCAGATGAGAACTTCAAGCTGAAGCACTATGGCATTGGGTGGGTCAGCATGGCCAACGCTGGGCCTGAC
ACCAATGGCTCTCAGTTCTTTATCACCTTGACCAAGCCCACCTGGTTGGACGGCAAACATGTGGTGTTTGGAAAAGTCATTGATGGGATGACAGTGGTGCACTCC
ATAGAGCTCCAAGCAACTGATGGGCATGACCGTCCACTCACCAACTGCTCGATCATCAACAGTGGCAAGATAGACGTGAAAACGCCTTTTGTGGTTGAGATCGCT
GATTGGTGA
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>PPIC|5480|protein
MGPGPRLLLPLVLCVGLGALVFSSGAEGFRKRGPSVTAKVFFDVRIGDKDVGRIVIGLFGKVVPKTVENFVALATGEKGYGYKGSKFHRVIKDFMIQGGDITTGD
GTGGVSIYGETFPDENFKLKHYGIGWVSMANAGPDTNGSQFFITLTKPTWLDGKHVVFGKVIDGMTVVHSIELQATDGHDRPLTNCSIINSGKIDVKTPFVVEIA
DW
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MGPGPRLLLPLVLCVGLGALVFSSGAEGFRKRGPSVTAKVFFDVRIGDKDVGRIVIGLFGKVVPKTVENFVALATGEKGYGYKGSKFHRVIKDFMIQGGDITTGD
GTGGVSIYGETFPDENFKLKHYGIGWVSMANAGPDTNGSQFFITLTKPTWLDGKHVVFGKVIDGMTVVHSIELQATDGHDRPLTNCSIINSGKIDVKTPFVVEIA
DW
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Evidence summary Top
Click 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 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Ma, 2007 | USA | SNP-based genomic screen | autism | 26 | - | 26 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.09266 | Up | 0.0336889 | |
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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