Evidence Details for NSUN6
Basic Information Top
Gene Symbol: | NSUN6 ( 4933414E04Rik,FLJ23743,NOPD1 ) |
---|---|
Gene Full Name: | NOP2/Sun domain family, member 6 |
Band: | 10p12.31 |
Quick Links | Entrez ID:221078; OMIM: NA; Uniprot ID:NSUN6_HUMAN; ENSEMBL ID: ENSG00000152487; HGNC ID: 23529 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NSUN6|221078|nucleotide
ATGTCTATTTTCCCTAAGATATCTTTGAGACCTGAGGTTGAAAACTATCTTAAGGAAGGCTTTATGAATAAGGAGATTGTGACTGCTTTAGGTAAACAAGAAGCA
GAAAGGAAGTTTGAAACTTTGTTAAAGCACCTGTCACATCCTCCATCATTTACAACTGTCAGAGTGAATACACATTTAGCCTCAGTACAACATGTGAAAAATCTG
TTACTTGATGAACTTCAGAAGCAGTTTAATGGATTAAGTGTTCCTATTCTTCAACATCCAGACCTTCAAGATGTGTTACTTATTCCTGTTATTGGACCCAGAAAG
AATATTAAAAAACAACAGTGTGAAGCCATTGTTGGAGCCCAGTGTGGCAATGCAGTTTTAAGAGGAGCCCATGTCTATGCCCCAGGAATTGTGTCAGCATCACAA
TTTATGAAAGCTGGAGATGTTATTTCTGTATACTCTGATATTAAAGGAAAATGTAAGAAAGGAGCCAAAGAATTTGATGGAACAAAAGTATTTCTTGGAAATGGG
ATTTCTGAACTAAGCCGCAAAGAAATCTTCAGTGGATTACCTGAACTGAAAGGCATGGGCATAAGAATGACAGAACCAGTATATCTCAGCCCTTCATTTGACAGT
GTACTGCCCCGTTACTTATTTTTACAAAATTTGCCATCTGCCTTAGTAAGTCATGTACTAAATCCTCAACCTGGAGAGAAGATTCTAGACTTGTGTGCAGCACCT
GGAGGGAAAACAACACACATTGCAGCACTAATGCATGATCAGGGAGAAGTTATAGCACTGGATAAAATCTTCAACAAAGTAGAAAAAATCAAACAGAATGCCTTA
TTGTTAGGGCTGAATTCCATCAGGGCATTTTGTTTTGATGGAACAAAGGCGGTTAAACTTGATATGGTGGAGGACACAGAAGGAGAACCTCCATTTCTACCAGAA
TCCTTTGACCGAATTCTTCTGGATGCACCCTGTAGTGGAATGGGACAGAGACCAAACATGGCCTGTACTTGGTCTGTGAAGGAAGTGGCATCATATCAGCCATTA
CAGCGAAAACTCTTCACTGCAGCGGTTCAGCTGCTGAAGCCAGAGGGTGTGCTGGTTTATAGCACGTGCACTATAACACTGGCCGAAAATGAAGAACAGGTTGCC
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ATGTCTATTTTCCCTAAGATATCTTTGAGACCTGAGGTTGAAAACTATCTTAAGGAAGGCTTTATGAATAAGGAGATTGTGACTGCTTTAGGTAAACAAGAAGCA
GAAAGGAAGTTTGAAACTTTGTTAAAGCACCTGTCACATCCTCCATCATTTACAACTGTCAGAGTGAATACACATTTAGCCTCAGTACAACATGTGAAAAATCTG
TTACTTGATGAACTTCAGAAGCAGTTTAATGGATTAAGTGTTCCTATTCTTCAACATCCAGACCTTCAAGATGTGTTACTTATTCCTGTTATTGGACCCAGAAAG
AATATTAAAAAACAACAGTGTGAAGCCATTGTTGGAGCCCAGTGTGGCAATGCAGTTTTAAGAGGAGCCCATGTCTATGCCCCAGGAATTGTGTCAGCATCACAA
TTTATGAAAGCTGGAGATGTTATTTCTGTATACTCTGATATTAAAGGAAAATGTAAGAAAGGAGCCAAAGAATTTGATGGAACAAAAGTATTTCTTGGAAATGGG
ATTTCTGAACTAAGCCGCAAAGAAATCTTCAGTGGATTACCTGAACTGAAAGGCATGGGCATAAGAATGACAGAACCAGTATATCTCAGCCCTTCATTTGACAGT
GTACTGCCCCGTTACTTATTTTTACAAAATTTGCCATCTGCCTTAGTAAGTCATGTACTAAATCCTCAACCTGGAGAGAAGATTCTAGACTTGTGTGCAGCACCT
GGAGGGAAAACAACACACATTGCAGCACTAATGCATGATCAGGGAGAAGTTATAGCACTGGATAAAATCTTCAACAAAGTAGAAAAAATCAAACAGAATGCCTTA
TTGTTAGGGCTGAATTCCATCAGGGCATTTTGTTTTGATGGAACAAAGGCGGTTAAACTTGATATGGTGGAGGACACAGAAGGAGAACCTCCATTTCTACCAGAA
TCCTTTGACCGAATTCTTCTGGATGCACCCTGTAGTGGAATGGGACAGAGACCAAACATGGCCTGTACTTGGTCTGTGAAGGAAGTGGCATCATATCAGCCATTA
CAGCGAAAACTCTTCACTGCAGCGGTTCAGCTGCTGAAGCCAGAGGGTGTGCTGGTTTATAGCACGTGCACTATAACACTGGCCGAAAATGAAGAACAGGTTGCC
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>NSUN6|221078|protein
MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRK
NIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKGAKEFDGTKVFLGNGISELSRKEIFSGLPELKGMGIRMTEPVYLSPSFDS
VLPRYLFLQNLPSALVSHVLNPQPGEKILDLCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKLDMVEDTEGEPPFLPE
SFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQLLKPEGVLVYSTCTITLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQ
LQRFDPSAVPLPDTDMDSLREARREDMLRLANKDSIGFFIAKFVKCKST
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MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRK
NIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKGAKEFDGTKVFLGNGISELSRKEIFSGLPELKGMGIRMTEPVYLSPSFDS
VLPRYLFLQNLPSALVSHVLNPQPGEKILDLCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKLDMVEDTEGEPPFLPE
SFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQLLKPEGVLVYSTCTITLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQ
LQRFDPSAVPLPDTDMDSLREARREDMLRLANKDSIGFFIAKFVKCKST
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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 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
No Evidence. |
Case Control Based Association Studies: 1
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
CAUCASIAN | |||||||||||
Hu, 2011_4 | USA | - | ASD | - - |
- | 2438 (-) |
- - |
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
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