AutismKB 2.0

Evidence Details for ODF3L2


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Basic Information Top
Gene Symbol:ODF3L2 ( C19orf19,FLJ40059,MGC129962,MGC129963 )
Gene Full Name: outer dense fiber of sperm tails 3-like 2
Band: 19p13.3
Quick LinksEntrez ID:284451; OMIM: NA; Uniprot ID:OD3L2_HUMAN; ENSEMBL ID: ENSG00000181781; HGNC ID: 26841
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ODF3L2|284451|nucleotide
ATGGGGACCCTCAGCTGCGACTCCACCCCACGGCTGGCCACAGCCCCCCTTGGCCGGCGAGTGACGGAGGGCCAGATTCCGGAGACCGGCCTGAGGAAGTCCTGT
GGGACGGCCACCCTGGAGAACGGCTCGGGGCCAGGCTTGTATGTCCTGCCGTCCACCGTGGGCTTCATCAACCACGACTGCACCAGGGTGGCCAGTCCCGCCTAC
TCGCTCGTCCGGAGGCCCAGTGAGGCACCACCTCAGGACACCAGCCCGGGCCCCATCTACTTCTTGGACCCCAAAGTCACACGCTTTGGCCGCAGCTGCACCCCT
GCCTACTCCATGCAGGGCCGGGCCAAGTCTCGGGGTCCGGAGGTGACGCCAGGCCCTGGGGCCTACAGCCCAGAGAAGGTGCCCCCTGTGCGCCATCGGACACCG
CCGGCTTTCACCCTGGGCTGCCGCCTCCCCCTGAAGCCCCTGGACACCTCAGCCCCTGCCCCTAATGCCTACACCATGCCCCCTCTGTGGGGCTCACAGATCTTC
ACCAAGCCCAGCAGCCCCAGCTACACGGTGGTGGGCCGCACCCCCCCCGCCCGCCCCCCGCAGGATCCTGCTGAGATACCAGGCCCGGGCCAGTACGACAGCCCG
GACGCAAACACCTACCGCCAGCGCCTGCCTGCCTTCACCATGCTGGGGCGGCCCCGGGCCCCGCGACCCCTGGAGGAGACCCCCGGCCCTGGCGCCCACTGCCCA
GAGCAGGTCACCGTGAACAAAGCCAGGGCTCCAGCGTTCTCTATGGGCATCCGCCACTCGAAACGGGCCAGCACCATGGCCGCCACCACGCCCTCCCGGCCTGCG
GGGCACAGGCTGCCCGGCCGCTGCTGCTAG


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>ODF3L2|284451|protein
MGTLSCDSTPRLATAPLGRRVTEGQIPETGLRKSCGTATLENGSGPGLYVLPSTVGFINHDCTRVASPAYSLVRRPSEAPPQDTSPGPIYFLDPKVTRFGRSCTP
AYSMQGRAKSRGPEVTPGPGAYSPEKVPPVRHRTPPAFTLGCRLPLKPLDTSAPAPNAYTMPPLWGSQIFTKPSSPSYTVVGRTPPARPPQDPAEIPGPGQYDSP
DANTYRQRLPAFTMLGRPRAPRPLEETPGPGAHCPEQVTVNKARAPAFSMGIRHSKRASTMAATTPSRPAGHRLPGRCC


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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 (2) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Schellenberg, 2006 USA microsatellite-based genomic screenautism 222 - 222 - - - -
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.

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  (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