AutismKB 2.0

Evidence Details for C5orf44


View Evidences View Variants View Annotations
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
Show »

>C5orf44|80006|protein
MEVNPPKQEHLLALKVMRLTKPTLFTNIPVTCEEKDLPGDLFNQLMRDDPSTVNGAEVLMLGEMLTLPQNFGNIFLGETFSSYISVHNDSNQVVKDILVKADLQT
SSQRLNLSASNAAVAELKPDCCIDDVIHHEVKEIGTHILVCAVSYTTQAGEKMYFRKFFKFQVLKPLDVKTKFYNAESDLSSVTDEVFLEAQIQNMTTSPMFMEK
VSLEPSIMYNVTELNSVSQAGECVSTFGSRAYLQPMDTRQYLYCLKPKNEFAEKAGIIKGVTVIGKLDIVWKTNLGERGRLQTSQLQRMAPGYGDVRLSLEAIPD
TVNLEEPFHITCKITNCSSERTMDLVLEMCNTNSIHWCGISGRQLGKLHPSSSLCLALTLLSSVQGLQSISGLRLTDTFLKRTYEYDDIAQVCVVSSAIKVES

Show »

Evidence summary Top

Click 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) 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
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
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
0.87 Down -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AA452545
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018