Evidence Details for C10orf12
Basic Information Top
Gene Symbol: | C10orf12 ( DKFZp564P1916,FLJ13022 ) |
---|---|
Gene Full Name: | chromosome 10 open reading frame 12 |
Band: | 10q24.1 |
Quick Links | Entrez ID:26148; OMIM: NA; Uniprot ID:CJ012_HUMAN; ENSEMBL ID: ENSG00000155640; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C10orf12|26148|nucleotide
ATGCAGAGTTCAGCTTTAGTAGAAAGTCTAATTACAGTAAAAATGGCAGCTGAGAATAGTGAGGAAGGCAATACCTGTATTATTCCTCAAAGAAATTTGTTCAAA
GCTTTATCAGAAGAGGCTTGGAACTCAGGGTTTATGGGGAACTCATCTAGAACTGCTGACAAAGAGAATACTTTACAGTGTCCAAAAACACCTTTGCGCCAGGAT
TTAGAGGCAAATGAACAAGATGCAAGGCCAAAGCAAGAGAACCATCTTCACTCTCTGGGAAGAAATAAGGTGGGTTACCATTTACATCCCAGTGATAAGGGCCAG
TTTGATCATTCCAAAGATGGTTGGTTAGGCCCCGGCCCTATGCCAGCTGTACACAAAGCGGCAAATGGACACTCAAGAACCAAGATGATATCAACCTCCATCAAG
ACAGCTCGGAAAAGTAAAAGGGCATCAGGGCTGAGGATAAATGATTATGATAACCAGTGTGATGTTGTTTATATCAGTCAACCAATAACAGAATGCCACTTTGAG
AATCAAAAATCAATATTATCTTCTCGGAAAACAGCCAGAAAGAGTACTCGAGGATACTTTTTCAATGGTGACTGTTGTGAGCTGCCAACTGTTCGTACACTGGCC
AGAAATTTACACTCCCAGGAAAAAGCAAGCTGCTCAGCATTGGCATCAGAGGCAGTTTTCACTCCTAAGCAGACCCTTACAATTCCAGCCCCTAGACATACAGTA
GATGTGCAGCTTCCCAGAGAAGACAACCCTGAAGAACCTAGCAAGGAAATCACCTCTCACGAGGAAGGAGGTGGAGACGTTTCACCTCGAAAAGAACCTCAAGAG
CCTGAGGTTTGCCCCACAAAGATTAAGCCGAACCTGAGCAGCTCCCCTAGGTCAGAGGAAACGACAGCCTCCAGCCTGGTGTGGCCTCTCCCTGCTCACCTTCCT
GAAGAGGACCTGCCAGAAGGTGGCTCCACAGTCTCAGCTCCCACAGCAAGTGGGATGTCTTCTCCTGAACACAACCAACCACCAGTTGCACTGTTGGATACGGAG
GAGATGAGTGTACCCCAGGACTGTCACCTCCTTCCCTCCACTGAAAGCTTTTCCGGGGGAGTCAGTGAAGATGTCATTTCTAGGCCTCATTCTCCTCCTGAAATA
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ATGCAGAGTTCAGCTTTAGTAGAAAGTCTAATTACAGTAAAAATGGCAGCTGAGAATAGTGAGGAAGGCAATACCTGTATTATTCCTCAAAGAAATTTGTTCAAA
GCTTTATCAGAAGAGGCTTGGAACTCAGGGTTTATGGGGAACTCATCTAGAACTGCTGACAAAGAGAATACTTTACAGTGTCCAAAAACACCTTTGCGCCAGGAT
TTAGAGGCAAATGAACAAGATGCAAGGCCAAAGCAAGAGAACCATCTTCACTCTCTGGGAAGAAATAAGGTGGGTTACCATTTACATCCCAGTGATAAGGGCCAG
TTTGATCATTCCAAAGATGGTTGGTTAGGCCCCGGCCCTATGCCAGCTGTACACAAAGCGGCAAATGGACACTCAAGAACCAAGATGATATCAACCTCCATCAAG
ACAGCTCGGAAAAGTAAAAGGGCATCAGGGCTGAGGATAAATGATTATGATAACCAGTGTGATGTTGTTTATATCAGTCAACCAATAACAGAATGCCACTTTGAG
AATCAAAAATCAATATTATCTTCTCGGAAAACAGCCAGAAAGAGTACTCGAGGATACTTTTTCAATGGTGACTGTTGTGAGCTGCCAACTGTTCGTACACTGGCC
AGAAATTTACACTCCCAGGAAAAAGCAAGCTGCTCAGCATTGGCATCAGAGGCAGTTTTCACTCCTAAGCAGACCCTTACAATTCCAGCCCCTAGACATACAGTA
GATGTGCAGCTTCCCAGAGAAGACAACCCTGAAGAACCTAGCAAGGAAATCACCTCTCACGAGGAAGGAGGTGGAGACGTTTCACCTCGAAAAGAACCTCAAGAG
CCTGAGGTTTGCCCCACAAAGATTAAGCCGAACCTGAGCAGCTCCCCTAGGTCAGAGGAAACGACAGCCTCCAGCCTGGTGTGGCCTCTCCCTGCTCACCTTCCT
GAAGAGGACCTGCCAGAAGGTGGCTCCACAGTCTCAGCTCCCACAGCAAGTGGGATGTCTTCTCCTGAACACAACCAACCACCAGTTGCACTGTTGGATACGGAG
GAGATGAGTGTACCCCAGGACTGTCACCTCCTTCCCTCCACTGAAAGCTTTTCCGGGGGAGTCAGTGAAGATGTCATTTCTAGGCCTCATTCTCCTCCTGAAATA
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>C10orf12|26148|protein
MQSSALVESLITVKMAAENSEEGNTCIIPQRNLFKALSEEAWNSGFMGNSSRTADKENTLQCPKTPLRQDLEANEQDARPKQENHLHSLGRNKVGYHLHPSDKGQ
FDHSKDGWLGPGPMPAVHKAANGHSRTKMISTSIKTARKSKRASGLRINDYDNQCDVVYISQPITECHFENQKSILSSRKTARKSTRGYFFNGDCCELPTVRTLA
RNLHSQEKASCSALASEAVFTPKQTLTIPAPRHTVDVQLPREDNPEEPSKEITSHEEGGGDVSPRKEPQEPEVCPTKIKPNLSSSPRSEETTASSLVWPLPAHLP
EEDLPEGGSTVSAPTASGMSSPEHNQPPVALLDTEEMSVPQDCHLLPSTESFSGGVSEDVISRPHSPPEIVSREESPQCSENQSSPMGLEPPMSLGKAEDNQSIS
AEVESGDTQELNVDPLLKESSTFTDENPSETEESEAAGGIGKLEGEDGDVKCLSEKDTYDTSIDSLEENLDKKKKGKKFPEASDRCLRSQLSDSSSADRCLRNQS
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MQSSALVESLITVKMAAENSEEGNTCIIPQRNLFKALSEEAWNSGFMGNSSRTADKENTLQCPKTPLRQDLEANEQDARPKQENHLHSLGRNKVGYHLHPSDKGQ
FDHSKDGWLGPGPMPAVHKAANGHSRTKMISTSIKTARKSKRASGLRINDYDNQCDVVYISQPITECHFENQKSILSSRKTARKSTRGYFFNGDCCELPTVRTLA
RNLHSQEKASCSALASEAVFTPKQTLTIPAPRHTVDVQLPREDNPEEPSKEITSHEEGGGDVSPRKEPQEPEVCPTKIKPNLSSSPRSEETTASSLVWPLPAHLP
EEDLPEGGSTVSAPTASGMSSPEHNQPPVALLDTEEMSVPQDCHLLPSTESFSGGVSEDVISRPHSPPEIVSREESPQCSENQSSPMGLEPPMSLGKAEDNQSIS
AEVESGDTQELNVDPLLKESSTFTDENPSETEESEAAGGIGKLEGEDGDVKCLSEKDTYDTSIDSLEENLDKKKKGKKFPEASDRCLRSQLSDSSSADRCLRNQS
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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) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
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
NGS 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 Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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