AutismKB 2.0

Evidence Details for C6orf103


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Basic Information Top
Gene Symbol:C6orf103 ( - )
Gene Full Name: chromosome 6 open reading frame 103
Band: 6q24.3
Quick LinksEntrez ID:79747; OMIM: NA; Uniprot ID:CAN7L_HUMAN; ENSEMBL ID: ENSG00000118492; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C6orf103|79747|nucleotide
ATGGCCTCCAAACAAACCAAAAAGAAAGAGGTGCATCGTATCAACTCGGCGCACGGATCGGATAAATCGAAAGATTTCTATCCTTTTGGCAGTAATGTACAATCT
GGTTCTACTGAACAAAAGAAGGGGAAATTCCCACTCTGGCCAGAGTGGAGTGAAGCTGACATAAATTCAGAAAAGTGGGATGCAGGCAAAGGTGCAAAAGAAAAG
GACAAAACAGGAAAAAGCCCTGTATTTCATTTTTTTGAGGACCCTGAAGGAAAGATTGAGTTACCACCATCCTTGAAAATTTATTCCTGGAAACGTCCACAAGAT
ATTTTATTTAGTCAGACTCCAGTAGTTGTGAAAAATGAAATCACGTTTGACTTATTTTCAGCAAATGAACATTTACTCTGCAGCGAGCTGATGAGATGGATTATC
AGTGAAATCTATGCAGTGTGGAAGATCTTCAATGGAGGAATTTTGAGCAATTATTTTAAGGGGACTTCAGGGGAACCTCCTCTTCTCCCCTGGAAGCCCTGGGAA
CACATATACTCTCTGTGCAAGGCTGTGAAGGGTCATATGCCTTTGTTCAATAGCTATGGAAAGTATGTTGTGAAACTTTACTGGATGGGTTGCTGGAGAAAGATA
ACAATTGATGACTTTTTGCCTTTTGATGAAGATAACAATCTATTGCTTCCAGCTACAACTTATGAATTTGAACTGTGGCCAATGCTTTTGTCTAAAGCTATTATC
AAGCTGGCAAATATTGACATCCATGTAGCAGACAGGAGAGAGCTGGGGGAGTTCACGGTTATTCATGCGCTCACAGGATGGTTACCAGAAGTCATTTCTCTTCAC
CCGGGATATATGGACAAAGTTTGGGAGCTCCTGAAAGAAATATTGCCTGAGTTTAAGCTGTCAGATGAGGCCAGCTCTGAAAGCAAAATAGCAGTGTTAGATTCT
AAATTAAAAGAACCAGGGAAAGAAGGGAAGGAGGGAAAAGAAATAAAGGATGGAAAGGAAGTAAAAGACGTGAAGGAATTCAAACCTGAAAGTTCTTTGACAACA
CTAAAGGCTCCTGAGAAAAGCGACAAAGTTCCAAAGGAGAAAGCAGATGCAAGAGACATTGGAAAGAAGAGAAGCAAAGATGGAGAAAAAGAAAAATTCAAATTC
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>C6orf103|79747|protein
MASKQTKKKEVHRINSAHGSDKSKDFYPFGSNVQSGSTEQKKGKFPLWPEWSEADINSEKWDAGKGAKEKDKTGKSPVFHFFEDPEGKIELPPSLKIYSWKRPQD
ILFSQTPVVVKNEITFDLFSANEHLLCSELMRWIISEIYAVWKIFNGGILSNYFKGTSGEPPLLPWKPWEHIYSLCKAVKGHMPLFNSYGKYVVKLYWMGCWRKI
TIDDFLPFDEDNNLLLPATTYEFELWPMLLSKAIIKLANIDIHVADRRELGEFTVIHALTGWLPEVISLHPGYMDKVWELLKEILPEFKLSDEASSESKIAVLDS
KLKEPGKEGKEGKEIKDGKEVKDVKEFKPESSLTTLKAPEKSDKVPKEKADARDIGKKRSKDGEKEKFKFSLHGSRPSSEVQYSVQSLSDCSSAIQTSHMVVYAT
FTPLYLFENKIFSLEKMADSAEKLREYGLSHICSHPVLVTRSRSCPLVAPPKPPPLPPWKLIRQKKETVITDEAQELIVKKPERFLEISSPFLNYRMTPFTIPTE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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
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