Evidence Details for NRXN1
Basic Information Top
Gene Symbol: | NRXN1 ( DKFZp313P2036,FLJ35941,Hs.22998,KIAA0578,PTHSL2 ) |
---|---|
Gene Full Name: | neurexin 1 |
Band: | 2p16.3 |
Quick Links | Entrez ID:9378; OMIM: 600565; Uniprot ID:NRX1A_HUMAN; ENSEMBL ID: ENSG00000179915; HGNC ID: 8008 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NRXN1|9378|nucleotide
ATGGGGACGGCGCTGCTCCAGCGCGGGGGCTGTTTTCTTCTGTGCCTCTCGCTGCTGCTCCTGGGCTGCTGGGCGGAGCTGGGCAGCGGGCTGGAGTTTCCGGGC
GCCGAGGGCCAATGGACGCGCTTCCCCAAGTGGAACGCCTGCTGCGAGAGCGAGATGAGCTTCCAGCTCAAGACTCGCAGCGCCCGCGGCCTCGTGCTCTACTTC
GACGACGAGGGCTTCTGCGACTTCCTGGAGCTGATTCTGACGCGCGGCGGCCGCCTGCAGCTCAGCTTCTCCATCTTCTGCGCTGAGCCTGCGACGCTCCTGGCC
GACACGCCGGTTAACGACGGCGCCTGGCACAGCGTGCGCATCCGCCGCCAGTTCCGCAACACCACGCTCTTCATCGACCAGGTGGAGGCCAAGTGGGTGGAGGTC
AAGTCCAAGCGCAGGGACATGACGGTGTTCAGCGGCCTTTTCGTCGGGGGGCTGCCCCCGGAACTGCGCGCCGCGGCGCTCAAGCTCACCCTGGCCTCGGTGAGG
GAGCGGGAGCCCTTCAAGGGGTGGATTCGTGACGTGAGGGTCAACTCCTCGCAGGTCCTGCCCGTGGACAGCGGCGAGGTGAAGCTGGACGATGAGCCGCCCAAC
AGCGGCGGGGGAAGCCCGTGCGAGGCGGGCGAGGAGGGCGAGGGCGGGGTGTGCCTCAACGGAGGTGTGTGCTCCGTGGTGGACGACCAGGCCGTGTGCGACTGC
TCGCGAACCGGCTTCCGCGGCAAGGACTGCAGCCAAGAAATAAAATTCGGTCTTCAGTGTGTTTTGCCGGTGCTGTTACATGACAATGACCAAGGAAAATACTGT
TGTATAAATACAGCAAAGCCTCTAACAGAAAAAGACAACAATGTGGAAGGTCTGGCGCACCTGATGATGGGCGACCAAGGTAAAAGTAAAGGAAAAGAAGAATAT
ATTGCCACGTTCAAAGGATCTGAATACTTCTGCTACGACTTGTCTCAAAACCCCATTCAAAGCAGCAGTGATGAAATAACTCTGTCATTTAAAACCCTTCAGAGG
AATGGACTGATGCTTCACACTGGGAAATCGGCTGATTATGTCAATCTTGCCCTGAAAAATGGAGCTGTCTCTCTGGTCATTAATTTGGGATCAGGGGCCTTTGAA
Show »
ATGGGGACGGCGCTGCTCCAGCGCGGGGGCTGTTTTCTTCTGTGCCTCTCGCTGCTGCTCCTGGGCTGCTGGGCGGAGCTGGGCAGCGGGCTGGAGTTTCCGGGC
GCCGAGGGCCAATGGACGCGCTTCCCCAAGTGGAACGCCTGCTGCGAGAGCGAGATGAGCTTCCAGCTCAAGACTCGCAGCGCCCGCGGCCTCGTGCTCTACTTC
GACGACGAGGGCTTCTGCGACTTCCTGGAGCTGATTCTGACGCGCGGCGGCCGCCTGCAGCTCAGCTTCTCCATCTTCTGCGCTGAGCCTGCGACGCTCCTGGCC
GACACGCCGGTTAACGACGGCGCCTGGCACAGCGTGCGCATCCGCCGCCAGTTCCGCAACACCACGCTCTTCATCGACCAGGTGGAGGCCAAGTGGGTGGAGGTC
AAGTCCAAGCGCAGGGACATGACGGTGTTCAGCGGCCTTTTCGTCGGGGGGCTGCCCCCGGAACTGCGCGCCGCGGCGCTCAAGCTCACCCTGGCCTCGGTGAGG
GAGCGGGAGCCCTTCAAGGGGTGGATTCGTGACGTGAGGGTCAACTCCTCGCAGGTCCTGCCCGTGGACAGCGGCGAGGTGAAGCTGGACGATGAGCCGCCCAAC
AGCGGCGGGGGAAGCCCGTGCGAGGCGGGCGAGGAGGGCGAGGGCGGGGTGTGCCTCAACGGAGGTGTGTGCTCCGTGGTGGACGACCAGGCCGTGTGCGACTGC
TCGCGAACCGGCTTCCGCGGCAAGGACTGCAGCCAAGAAATAAAATTCGGTCTTCAGTGTGTTTTGCCGGTGCTGTTACATGACAATGACCAAGGAAAATACTGT
TGTATAAATACAGCAAAGCCTCTAACAGAAAAAGACAACAATGTGGAAGGTCTGGCGCACCTGATGATGGGCGACCAAGGTAAAAGTAAAGGAAAAGAAGAATAT
ATTGCCACGTTCAAAGGATCTGAATACTTCTGCTACGACTTGTCTCAAAACCCCATTCAAAGCAGCAGTGATGAAATAACTCTGTCATTTAAAACCCTTCAGAGG
AATGGACTGATGCTTCACACTGGGAAATCGGCTGATTATGTCAATCTTGCCCTGAAAAATGGAGCTGTCTCTCTGGTCATTAATTTGGGATCAGGGGCCTTTGAA
Show »
>NRXN1|9378|protein
MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKTRSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLA
DTPVNDGAWHSVRIRRQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPFKGWIRDVRVNSSQVLPVDSGEVKLDDEPPN
SGGGSPCEAGEEGEGGVCLNGGVCSVVDDQAVCDCSRTGFRGKDCSQEIKFGLQCVLPVLLHDNDQGKYCCINTAKPLTEKDNNVEGLAHLMMGDQGKSKGKEEY
IATFKGSEYFCYDLSQNPIQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNGKFNDNAWHDVKVTRNLRQHSGIGHAMV
NKLHCSVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLDPITFE
Show »
MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKTRSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLA
DTPVNDGAWHSVRIRRQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPFKGWIRDVRVNSSQVLPVDSGEVKLDDEPPN
SGGGSPCEAGEEGEGGVCLNGGVCSVVDDQAVCDCSRTGFRGKDCSQEIKFGLQCVLPVLLHDNDQGKYCCINTAKPLTEKDNNVEGLAHLMMGDQGKSKGKEEY
IATFKGSEYFCYDLSQNPIQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNGKFNDNAWHDVKVTRNLRQHSGIGHAMV
NKLHCSVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLDPITFE
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) | Yes | 0 (1) | 3 (16) | 0 (0) | 1 (2) | 0 (0) | 3 (10) | 0 (0) | 0 (2) | 3 (4) | 68 (35) |
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Inheritance | AD?/AR (Pitt-Hopkins-like) |
---|---|
OMIM | Pitt-Hopkins-like syndrome 2 (600565) |
Description | Disrupted in ASD, ID, and other neurodevelopmental and psychiatric disorders (autosomal dominant?); Pitt-Hopkins-like syndrome-2 (autosomal recessive) |
Reference(s) | 20468056; 19404257; 19736351; 18179900; 20531469; 17322880; 20162629; 19896112; |
Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
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 microarray | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 | ||
Wisniowiecka-Kowalnik, 2010 | - | aCGH | ASD | 3 | 1 | 2 | - | - | - | - | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Soysal, 2011 | - | aCGH | - | - | ASD | - | - | - | - | 1 | - | 1 |
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 | ||
Vi?as-Jornet M, 2014 | Spain | aCGH | autism | - | - | - | - | 3 | - | 3 | ||
Imitola J, 2014 | - | - | - | - | autism | - | - | - | - | 2 | - | 2 |
Sanders SJ, 2015 | - | - | - | - | ASD | 2591 | - | - | - | - | - | - |
Eriksson MA, 2015 | Sweden | FISH? | - | - | autism | - | - | - | - | 162 | - | 162 |
Soueid J, 2016 | Lebanese | - | autistic | 35 | 33 | 2 | - | 41 | 37 | 78 | ||
Yuen RK, 2016 | - | WGS | ASD | 200 | - | - | - | 200 | - | - | ||
Woodbury-Smith M, 2017 | - | Microarray | ASD | - | - | - | - | 1 | - | - | ||
C Yuen RK, 2017 | - | WGS | ASD | - | - | - | - | 1745 | - | - |
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: 2
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
ASIAN | |||||||||||
Liu, 2011_1 | China | GeneAmp 2720 | ASD | - 3-8 |
- | 500 (32.40%) |
- 3-46 | ||||
MIXED/OTHERS | |||||||||||
Wang J, 2018_1 | China | - | ASD | - - |
- | 1923 (12.48%) |
- - |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2012 | - | 343 | 50 | De novo gene disruptions in children on the autistic spectrum. |
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
O'Roak BJ, 2014 | 3486 | - | 59 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk. |
Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
Liu Y, 2018 | - | 300 | 4 | A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Stu |
Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
Redin C, 2017 | 28 | - | 34 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Onay H, 2016 | - | ABI 3100 | ASD | - | - | - | 30 | - | ||
Wen Z, 2017 | China | Illumina HiSeq 2500 | ASD | - | - | - | 120 | Sanger sequencing |
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.