AutismKB 2.0

Evidence Details for DNA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DNA2 ( DNA2L,FLJ10063,KIAA0083,MGC133297 )
Gene Full Name: DNA replication helicase 2 homolog (yeast)
Band: 10q21.3
Quick LinksEntrez ID:1763; OMIM: 601810; Uniprot ID:DNA2L_HUMAN; ENSEMBL ID: ENSG00000138346; HGNC ID: 2939
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNA2|1763|nucleotide
ATGGAGCAGCTGAACGAACTGGAGCTGCTGATGGAGAAGAGTTTTTGGGAGGAGGCGGAGCTGCCGGCGGAGCTATTTCAGAAGAAAGTGGTAGCTTCCTTTCCA
AGAACAGTTCTGAGCACAGGAATGGATAACCGGTACCTGGTGTTGGCAGTCAATACTGTACAGAACAAAGAGGGAAACTGTGAAAAGCGCCTGGTCATCACTGCT
TCACAGTCACTAGAAAATAAAGAACTATGCATCCTTAGGAATGACTGGTGTTCTGTTCCAGTAGAGCCAGGAGATATCATTCATTTGGAGGGAGACTGCACATCT
GACACTTGGATAATAGATAAAGATTTTGGATATTTGATTCTGTATCCAGACATGCTGATTTCTGGCACCAGCATAGCCAGTAGTATTCGATGTATGAGAAGAGCT
GTCCTGAGTGAAACTTTTAGGAGCTCTGATCCAGCCACACGCCAAATGCTAATTGGTACGGTTCTCCATGAGGTGTTTCAAAAAGCCATAAATAATAGCTTTGCC
CCAGAAAAGCTACAAGAACTTGCTTTTCAAACAATTCAAGAAATAAGACATTTGAAGGAAATGTACCGCTTAAATCTAAGTCAAGATGAAATAAAACAAGAAGTA
GAGGACTATCTTCCTTCGTTTTGTAAATGGGCAGGAGATTTCATGCATAAAAACACTTCGACTGACTTCCCTCAGATGCAGCTCTCTCTGCCAAGTGATAATAGT
AAGGATAATTCAACATGTAACATTGAAGTCGTGAAACCAATGGATATTGAAGAAAGCATTTGGTCCCCTAGGTTTGGATTGAAAGGCAAAATAGATGTTACAGTT
GGTGTGAAAATACATCGAGGGTATAAAACAAAATACAAGATAATGCCGCTGGAACTTAAAACTGGCAAAGAATCAAATTCTATTGAACACCGTAGTCAGGTTGTT
CTGTACACTCTACTAAGCCAAGAGAGAAGAGCTGATCCAGAGGCTGGCTTGCTTCTCTACCTCAAGACTGGTCAGATGTACCCTGTGCCTGCCAACCATCTAGAT
AAAAGAGAATTATTAAAGCTAAGAAACCAGATGGCATTCTCATTGTTTCACCGTATTAGCAAATCTGCTACTAGACAGAAGACACAGCTTGCTTCTTTGCCACAA
Show »

>DNA2|1763|protein
MEQLNELELLMEKSFWEEAELPAELFQKKVVASFPRTVLSTGMDNRYLVLAVNTVQNKEGNCEKRLVITASQSLENKELCILRNDWCSVPVEPGDIIHLEGDCTS
DTWIIDKDFGYLILYPDMLISGTSIASSIRCMRRAVLSETFRSSDPATRQMLIGTVLHEVFQKAINNSFAPEKLQELAFQTIQEIRHLKEMYRLNLSQDEIKQEV
EDYLPSFCKWAGDFMHKNTSTDFPQMQLSLPSDNSKDNSTCNIEVVKPMDIEESIWSPRFGLKGKIDVTVGVKIHRGYKTKYKIMPLELKTGKESNSIEHRSQVV
LYTLLSQERRADPEAGLLLYLKTGQMYPVPANHLDKRELLKLRNQMAFSLFHRISKSATRQKTQLASLPQIIEEEKTCKYCSQIGNCALYSRAVEQQMDCSSVPI
VMLPKIEEETQHLKQTHLEYFSLWCLMLTLESQSKDNKKNHQNIWLMPASEMEKSGSCIGNLIRMEHVKIVCDGQYLHNFQCKHGAIPVTNLMAGDRVIVSGEER
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 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top