AutismKB 2.0

Evidence Details for C5orf44


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Basic Information Top
Gene Symbol:C5orf44 ( FLJ13611,FLJ26957,MGC48585 )
Gene Full Name: chromosome 5 open reading frame 44
Band: 5q12.3
Quick LinksEntrez ID:80006; OMIM: NA; Uniprot ID:CE044_HUMAN; ENSEMBL ID: ENSG00000113597; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C5orf44|80006|nucleotide
ATGGAAGTGAATCCCCCTAAACAGGAGCACCTGCTGGCGCTAAAAGTGATGCGGCTGACTAAGCCTACTTTATTCACCAATATCCCAGTAACATGTGAAGAGAAA
GACTTACCTGGAGATCTCTTTAACCAGCTGATGAGAGATGATCCTTCAACCGTTAATGGTGCAGAAGTTTTAATGTTGGGAGAAATGCTGACTTTACCACAGAAT
TTTGGGAATATATTTTTGGGAGAGACCTTTTCCAGTTATATCAGCGTTCATAATGATAGCAATCAAGTTGTAAAAGACATATTAGTAAAAGCTGATCTTCAGACA
AGTTCTCAGCGTTTAAATCTTTCAGCCTCCAATGCTGCAGTGGCTGAACTTAAACCGGATTGTTGTATTGATGATGTCATACATCATGAAGTCAAAGAAATTGGA
ACACACATCTTGGTATGTGCTGTGAGTTATACAACTCAGGCTGGAGAAAAAATGTATTTCAGAAAATTCTTCAAATTTCAGGTTCTCAAACCATTGGATGTGAAA
ACCAAATTTTACAATGCAGAGAGTGACCTCAGTTCTGTGACTGATGAAGTATTTCTGGAAGCCCAGATTCAGAATATGACAACCTCACCTATGTTTATGGAGAAG
GTTTCACTGGAGCCATCTATTATGTACAATGTAACAGAATTAAATTCAGTCAGCCAAGCTGGAGAATGTGTGTCTACGTTTGGGTCAAGAGCATATTTGCAACCA
ATGGATACACGCCAGTACTTATACTGCCTAAAGCCAAAGAATGAATTTGCAGAAAAAGCAGGCATCATTAAGGGAGTAACAGTAATTGGAAAATTGGATATAGTA
TGGAAAACAAATCTAGGTGAAAGGGGAAGGTTACAGACCAGCCAACTTCAAAGAATGGCTCCAGGTTATGGAGATGTTAGGTTGTCTTTGGAGGCAATACCAGAT
ACCGTAAACCTTGAAGAACCTTTTCATATTACCTGTAAAATAACAAACTGCAGCAGTGAAAGGACTATGGATCTGGTTTTGGAAATGTGCAATACCAATTCCATC
CACTGGTGTGGAATTTCAGGAAGACAGCTGGGAAAGCTGCATCCAAGTTCTTCGCTCTGTCTTGCCCTTACTCTGCTTTCTTCAGTACAGGGACTGCAAAGCATC
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>C5orf44|80006|protein
MEVNPPKQEHLLALKVMRLTKPTLFTNIPVTCEEKDLPGDLFNQLMRDDPSTVNGAEVLMLGEMLTLPQNFGNIFLGETFSSYISVHNDSNQVVKDILVKADLQT
SSQRLNLSASNAAVAELKPDCCIDDVIHHEVKEIGTHILVCAVSYTTQAGEKMYFRKFFKFQVLKPLDVKTKFYNAESDLSSVTDEVFLEAQIQNMTTSPMFMEK
VSLEPSIMYNVTELNSVSQAGECVSTFGSRAYLQPMDTRQYLYCLKPKNEFAEKAGIIKGVTVIGKLDIVWKTNLGERGRLQTSQLQRMAPGYGDVRLSLEAIPD
TVNLEEPFHITCKITNCSSERTMDLVLEMCNTNSIHWCGISGRQLGKLHPSSSLCLALTLLSSVQGLQSISGLRLTDTFLKRTYEYDDIAQVCVVSSAIKVES

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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top