Evidence Details for C18orf54
Basic Information Top
Gene Symbol: | C18orf54 ( LAS2,MGC33382 ) |
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Gene Full Name: | chromosome 18 open reading frame 54 |
Band: | 18q21.2 |
Quick Links | Entrez ID:162681; OMIM: 613258; Uniprot ID:CR054_HUMAN; ENSEMBL ID: ENSG00000166845; HGNC ID: 13796 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C18orf54|162681|nucleotide
ATGGCGAAATCAAAGACAAAACATAGACTTTGTTCTCAGGAATCTTCAGTATCTGCCCTGCTGGCAAGCTGCACCCTGAGTGGTAGTAATTCCTCTAATTCTGAT
GGCTCGTTTCACTATAAAGATAAGCTGTACAGATCTGCTTCTCAAGCTCTACAGGCTTATATTGATGATTTTGATCTAGGCCAAATATATCCTGGTGCAAGCACT
GGAAAAATTAACATTGATGAGGATTTTACTAATATGTCACAGTTCTGCAACTATATTTACAAACCAAACAATGCTTTTGAAAACCTTGATCACAAAAAGCACTCA
AACTTCATATCCTGTAGAAGACACACCGTTAATGACATAGACTCCATGAGCCTAACAACTGATGATCTATTAAGACTCCCAGCAGATGGATCATTTTCTTATACT
TATGTTGGACCGAGTCACCGAACGAGCAAGAAAAACAAGAAATGCCGTGGAAGACTGGGTTCATTGGACATTGAGAAGAATCCACATTTTCAAGGACCCTACACT
TCCATGGGCAAGGATAACTTTGTTACTCCTGTTATACGCTCAAATATAAATGGAAAGCAATGTGGTGACAAAATTGAATTGCTTATCTTGAAGGCCAAGAGAAAT
CTAGAGCAGTGTACTGAAGAATTACCAAAGTCCATGAAAAAGGATGACAGTCCTTGCTCATTAGATAAACTTGAAGCAGACAGATCATGGGAAAATATTCCTGTT
ACTTTCAAATCTCCTGTTCCCGTTAACTCTGATGATAGTCCTCAACAAACTTCAAGGGCAAAGAGTGCTAAAGGGGTTCTTGAAGACTTTCTAAATAATGATAAT
CAGAGCTGTACTCTCTCTGGAGGCAAACATCATGGTCCTGTTGAAGCCCTGAAACAAATGTTATTTAACCTTCAAGCAGTACAAGAACGTTTTAATCAAAATAAG
ACCACAGATCCAAAAGAAGAGATTAAACAAGTTTCAGAAGATGATTTCTCTAAATTACAGTTGAAGGAAAGTATGATTCCTATTACTAGGTCACTTCAGAAGGCT
TTGCACCATTTATCTCGCCTGAGAGACCTGGTTGATGATACGAATGGAGAACGGTCACCGAAAATGTGA
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ATGGCGAAATCAAAGACAAAACATAGACTTTGTTCTCAGGAATCTTCAGTATCTGCCCTGCTGGCAAGCTGCACCCTGAGTGGTAGTAATTCCTCTAATTCTGAT
GGCTCGTTTCACTATAAAGATAAGCTGTACAGATCTGCTTCTCAAGCTCTACAGGCTTATATTGATGATTTTGATCTAGGCCAAATATATCCTGGTGCAAGCACT
GGAAAAATTAACATTGATGAGGATTTTACTAATATGTCACAGTTCTGCAACTATATTTACAAACCAAACAATGCTTTTGAAAACCTTGATCACAAAAAGCACTCA
AACTTCATATCCTGTAGAAGACACACCGTTAATGACATAGACTCCATGAGCCTAACAACTGATGATCTATTAAGACTCCCAGCAGATGGATCATTTTCTTATACT
TATGTTGGACCGAGTCACCGAACGAGCAAGAAAAACAAGAAATGCCGTGGAAGACTGGGTTCATTGGACATTGAGAAGAATCCACATTTTCAAGGACCCTACACT
TCCATGGGCAAGGATAACTTTGTTACTCCTGTTATACGCTCAAATATAAATGGAAAGCAATGTGGTGACAAAATTGAATTGCTTATCTTGAAGGCCAAGAGAAAT
CTAGAGCAGTGTACTGAAGAATTACCAAAGTCCATGAAAAAGGATGACAGTCCTTGCTCATTAGATAAACTTGAAGCAGACAGATCATGGGAAAATATTCCTGTT
ACTTTCAAATCTCCTGTTCCCGTTAACTCTGATGATAGTCCTCAACAAACTTCAAGGGCAAAGAGTGCTAAAGGGGTTCTTGAAGACTTTCTAAATAATGATAAT
CAGAGCTGTACTCTCTCTGGAGGCAAACATCATGGTCCTGTTGAAGCCCTGAAACAAATGTTATTTAACCTTCAAGCAGTACAAGAACGTTTTAATCAAAATAAG
ACCACAGATCCAAAAGAAGAGATTAAACAAGTTTCAGAAGATGATTTCTCTAAATTACAGTTGAAGGAAAGTATGATTCCTATTACTAGGTCACTTCAGAAGGCT
TTGCACCATTTATCTCGCCTGAGAGACCTGGTTGATGATACGAATGGAGAACGGTCACCGAAAATGTGA
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>C18orf54|162681|protein
MAKSKTKHRLCSQESSVSALLASCTLSGSNSSNSDGSFHYKDKLYRSASQALQAYIDDFDLGQIYPGASTGKINIDEDFTNMSQFCNYIYKPNNAFENLDHKKHS
NFISCRRHTVNDIDSMSLTTDDLLRLPADGSFSYTYVGPSHRTSKKNKKCRGRLGSLDIEKNPHFQGPYTSMGKDNFVTPVIRSNINGKQCGDKIELLILKAKRN
LEQCTEELPKSMKKDDSPCSLDKLEADRSWENIPVTFKSPVPVNSDDSPQQTSRAKSAKGVLEDFLNNDNQSCTLSGGKHHGPVEALKQMLFNLQAVQERFNQNK
TTDPKEEIKQVSEDDFSKLQLKESMIPITRSLQKALHHLSRLRDLVDDTNGERSPKM
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MAKSKTKHRLCSQESSVSALLASCTLSGSNSSNSDGSFHYKDKLYRSASQALQAYIDDFDLGQIYPGASTGKINIDEDFTNMSQFCNYIYKPNNAFENLDHKKHS
NFISCRRHTVNDIDSMSLTTDDLLRLPADGSFSYTYVGPSHRTSKKNKKCRGRLGSLDIEKNPHFQGPYTSMGKDNFVTPVIRSNINGKQCGDKIELLILKAKRN
LEQCTEELPKSMKKDDSPCSLDKLEADRSWENIPVTFKSPVPVNSDDSPQQTSRAKSAKGVLEDFLNNDNQSCTLSGGKHHGPVEALKQMLFNLQAVQERFNQNK
TTDPKEEIKQVSEDDFSKLQLKESMIPITRSLQKALHHLSRLRDLVDDTNGERSPKM
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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 (0) | 0 (0) | 0 (1) |
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 |
---|---|---|---|---|
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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