Evidence Details for SFTPC
Basic Information Top
| Gene Symbol: | SFTPC ( PSP-C,SFTP2,SMDP2,SP-C ) |
|---|---|
| Gene Full Name: | surfactant protein C |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:6440; OMIM: 178620; Uniprot ID:PSPC_HUMAN; ENSEMBL ID: ENSG00000168484; HGNC ID: 10802 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SFTPC|6440|nucleotide
ATGGATGTGGGCAGCAAAGAGGTCCTGATGGAGAGCCCGCCGGACTACTCCGCAGCTCCCCGGGGCCGATTTGGCATTCCCTGCTGCCCAGTGCACCTGAAACGC
CTTCTTATCGTGGTGGTGGTGGTGGTCCTCATCGTCGTGGTGATTGTGGGAGCCCTGCTCATGGGTCTCCACATGAGCCAGAAACACACGGAGATGGTTCTGGAG
ATGAGCATTGGGGCGCCGGAAGCCCAGCAACGCCTGGCCCTGAGTGAGCACCTGGTTACCACTGCCACCTTCTCCATCGGCTCCACTGGCCTCGTGGTGTATGAC
TACCAGCAGCTGCTGATCGCCTACAAGCCAGCCCCTGGCACCTGCTGCTACATCATGAAGATAGCTCCAGAGAGCATCCCCAGTCTTGAGGCTCTCACTAGAAAA
GTCCACAACTTCCAGGCCAAGCCCGCAGTGCCTACGTCTAAGCTGGGCCAGGCAGAGGGGCGAGATGCAGGCTCAGCACCCTCCGGAGGGGACCCGGCCTTCCTG
GGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGCCGCTCTACTACATCTAG
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ATGGATGTGGGCAGCAAAGAGGTCCTGATGGAGAGCCCGCCGGACTACTCCGCAGCTCCCCGGGGCCGATTTGGCATTCCCTGCTGCCCAGTGCACCTGAAACGC
CTTCTTATCGTGGTGGTGGTGGTGGTCCTCATCGTCGTGGTGATTGTGGGAGCCCTGCTCATGGGTCTCCACATGAGCCAGAAACACACGGAGATGGTTCTGGAG
ATGAGCATTGGGGCGCCGGAAGCCCAGCAACGCCTGGCCCTGAGTGAGCACCTGGTTACCACTGCCACCTTCTCCATCGGCTCCACTGGCCTCGTGGTGTATGAC
TACCAGCAGCTGCTGATCGCCTACAAGCCAGCCCCTGGCACCTGCTGCTACATCATGAAGATAGCTCCAGAGAGCATCCCCAGTCTTGAGGCTCTCACTAGAAAA
GTCCACAACTTCCAGGCCAAGCCCGCAGTGCCTACGTCTAAGCTGGGCCAGGCAGAGGGGCGAGATGCAGGCTCAGCACCCTCCGGAGGGGACCCGGCCTTCCTG
GGCATGGCCGTGAGCACCCTGTGTGGCGAGGTGCCGCTCTACTACATCTAG
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>SFTPC|6440|protein
MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYD
YQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI
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MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYD
YQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEGRDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top 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.