Evidence Details for SEC22C
Basic Information Top
Gene Symbol: | SEC22C ( DKFZp761F2321,MGC13261,MGC5373,SEC22L3 ) |
---|---|
Gene Full Name: | SEC22 vesicle trafficking protein homolog C (S. cerevisiae) |
Band: | 3p22.1 |
Quick Links | Entrez ID:9117; OMIM: 604028; Uniprot ID:SC22C_HUMAN; ENSEMBL ID: ENSG00000093183; HGNC ID: 16828 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SEC22C|9117|nucleotide
ATGTCCGTGATCTTTTTTGCCTGCGTGGTACGGGTAAGGGATGGACTGCCCCTCTCAGCCTCTACTGATTTTTACCACACCCAAGATTTTTTGGAATGGAGGAGA
CGGCTCAAGAGTTTAGCCTTGCGACTGGCCCAGTATCCAGGTCGAGGTTCTGCAGAAGGTTGTGACTTTAGTATACATTTTTCTTCTTTCGGGGACGTGGCCTGC
ATGGCTATCTGCTCCTGCCAGTGTCCAGCAGCCATGGCCTTCTGCTTCCTGGAGACCCTGTGGTGGGAATTCACAGCTTCCTATGACACTACCTGCATTGGCCTA
GCCTCCAGGCCATACGCTTTTCTTGAGTTTGACAGCATCATTCAGAAAGTGAAGTGGCATTTTAACTATGTAAGTTCCTCTCAGATGGAGTGCAGCTTGGAAAAA
ATTCAGGAGGAGCTCAAGTTGCAGCCTCCAGCGGTTCTCACTCTGGAGGACACAGATGTGGCAAATGGGGTGATGAATGGTCACACACCGATGCACTTGGAGCCT
GCTCCTAATTTCCGAATGGAACCAGTGACAGCCCTGGGTATCCTCTCCCTCATTCTCAACATCATGTGTGCTGCCCTGAATCTCATTCGAGGAGTTCACCTTGCA
GAACATTCTTTACAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGATCCAAGGAGCTGGTTCTGCTGG
TTGGACCAAACCTCGTGA
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ATGTCCGTGATCTTTTTTGCCTGCGTGGTACGGGTAAGGGATGGACTGCCCCTCTCAGCCTCTACTGATTTTTACCACACCCAAGATTTTTTGGAATGGAGGAGA
CGGCTCAAGAGTTTAGCCTTGCGACTGGCCCAGTATCCAGGTCGAGGTTCTGCAGAAGGTTGTGACTTTAGTATACATTTTTCTTCTTTCGGGGACGTGGCCTGC
ATGGCTATCTGCTCCTGCCAGTGTCCAGCAGCCATGGCCTTCTGCTTCCTGGAGACCCTGTGGTGGGAATTCACAGCTTCCTATGACACTACCTGCATTGGCCTA
GCCTCCAGGCCATACGCTTTTCTTGAGTTTGACAGCATCATTCAGAAAGTGAAGTGGCATTTTAACTATGTAAGTTCCTCTCAGATGGAGTGCAGCTTGGAAAAA
ATTCAGGAGGAGCTCAAGTTGCAGCCTCCAGCGGTTCTCACTCTGGAGGACACAGATGTGGCAAATGGGGTGATGAATGGTCACACACCGATGCACTTGGAGCCT
GCTCCTAATTTCCGAATGGAACCAGTGACAGCCCTGGGTATCCTCTCCCTCATTCTCAACATCATGTGTGCTGCCCTGAATCTCATTCGAGGAGTTCACCTTGCA
GAACATTCTTTACAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGATCCAAGGAGCTGGTTCTGCTGG
TTGGACCAAACCTCGTGA
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>SEC22C|9117|protein
MSVIFFACVVRVRDGLPLSASTDFYHTQDFLEWRRRLKSLALRLAQYPGRGSAEGCDFSIHFSSFGDVACMAICSCQCPAAMAFCFLETLWWEFTASYDTTCIGL
ASRPYAFLEFDSIIQKVKWHFNYVSSSQMECSLEKIQEELKLQPPAVLTLEDTDVANGVMNGHTPMHLEPAPNFRMEPVTALGILSLILNIMCAALNLIRGVHLA
EHSLQVAHEEIGNILAFLVPFVACIFQDPRSWFCWLDQTS
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MSVIFFACVVRVRDGLPLSASTDFYHTQDFLEWRRRLKSLALRLAQYPGRGSAEGCDFSIHFSSFGDVACMAICSCQCPAAMAFCFLETLWWEFTASYDTTCIGL
ASRPYAFLEFDSIIQKVKWHFNYVSSSQMECSLEKIQEELKLQPPAVLTLEDTDVANGVMNGHTPMHLEPAPNFRMEPVTALGILSLILNIMCAALNLIRGVHLA
EHSLQVAHEEIGNILAFLVPFVACIFQDPRSWFCWLDQTS
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Evidence summary Top
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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) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | autism with early onset | autism | 12 (25.00%) |
1.578 | Up | 0.0403 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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