Evidence Details for NPTX2
Basic Information Top
Gene Symbol: | NPTX2 ( NARP,NP-II,NP2 ) |
---|---|
Gene Full Name: | neuronal pentraxin II |
Band: | 7q22.1 |
Quick Links | Entrez ID:4885; OMIM: 600750; Uniprot ID:NPTX2_HUMAN; ENSEMBL ID: ENSG00000106236; HGNC ID: 7953 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NPTX2|4885|nucleotide
ATGCTGGCGCTGCTGGCCGCCAGCGTGGCGCTCGCCGTGGCCGCTGGGGCCCAGGACAGCCCGGCGCCCGGTAGCCGCTTCGTGTGCACGGCACTGCCCCCAGAG
GCGGTGCACGCCGGCTGCCCGCTGCCCGCGATGCCCATGCAGGGCGGCGCGCAGAGTCCCGAGGAGGAGCTGAGGGCCGCGGTGCTGCAGCTGCGCGAGACCGTC
GTGCAGCAGAAGGAGACGCTGGGCGCGCAGCGCGAGGCCATCCGCGAGCTCACGGGCAAGCTAGCGCGCTGCGAGGGGCTGGCGGGCGGCAAGGCGCGCGGCGCG
GGGGCCACGGGCAAGGACACTATGGGCGACCTGCCGCGGGACCCCGGCCACGTCGTGGAGCAGCTCAGCCGCTCGCTGCAGACCCTCAAGGACCGCCTGGAGAGC
CTCGAGCACCAGCTCAGAGCAAACGTGTCCAATGCTGGGCTGCCCGGCGACTTCCGCGAGGTGCTCCAGCAGCGGCTGGGGGAGCTGGAGAGGCAGCTTCTGCGC
AAGGTGGCAGAGCTGGAGGACGAGAAGTCCCTGCTGCACAATGAGACCTCGGCTCACCGGCAGAAGACCGAGAGCACCCTGAACGCGCTGCTGCAGAGGGTCACC
GAGCTGGAGCGAGGCAATAGCGCCTTTAAGTCACCAGATGCGTTCAAGGTGTCCCTCCCACTCCGCACAAACTACCTATACGGCAAGATCAAGAAGACGCTGCCT
GAGCTGTACGCCTTCACCATCTGCCTGTGGCTGCGGTCCAGCGCCTCACCAGGCATTGGCACCCCCTTCTCCTATGCGGTGCCAGGGCAGGCCAACGAGATCGTG
CTGATCGAGTGGGGCAACAACCCCATCGAGCTGCTCATCAACGACAAGGTTGCGCAGCTGCCCCTGTTTGTCAGTGACGGCAAGTGGCACCACATCTGTGTCACC
TGGACGACACGGGATGGCATGTGGGAGGCATTCCAGGACGGAGAGAAGCTGGGCACTGGGGAGAACCTGGCCCCCTGGCACCCCATCAAGCCCGGGGGCGTGCTG
ATCCTTGGACAAGAGCAGGACACCGTGGGGGGTAGGTTTGATGCCACTCAGGCATTTGTCGGGGAGCTCAGCCAGTTCAACATATGGGACCGCGTCCTTCGCGCA
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ATGCTGGCGCTGCTGGCCGCCAGCGTGGCGCTCGCCGTGGCCGCTGGGGCCCAGGACAGCCCGGCGCCCGGTAGCCGCTTCGTGTGCACGGCACTGCCCCCAGAG
GCGGTGCACGCCGGCTGCCCGCTGCCCGCGATGCCCATGCAGGGCGGCGCGCAGAGTCCCGAGGAGGAGCTGAGGGCCGCGGTGCTGCAGCTGCGCGAGACCGTC
GTGCAGCAGAAGGAGACGCTGGGCGCGCAGCGCGAGGCCATCCGCGAGCTCACGGGCAAGCTAGCGCGCTGCGAGGGGCTGGCGGGCGGCAAGGCGCGCGGCGCG
GGGGCCACGGGCAAGGACACTATGGGCGACCTGCCGCGGGACCCCGGCCACGTCGTGGAGCAGCTCAGCCGCTCGCTGCAGACCCTCAAGGACCGCCTGGAGAGC
CTCGAGCACCAGCTCAGAGCAAACGTGTCCAATGCTGGGCTGCCCGGCGACTTCCGCGAGGTGCTCCAGCAGCGGCTGGGGGAGCTGGAGAGGCAGCTTCTGCGC
AAGGTGGCAGAGCTGGAGGACGAGAAGTCCCTGCTGCACAATGAGACCTCGGCTCACCGGCAGAAGACCGAGAGCACCCTGAACGCGCTGCTGCAGAGGGTCACC
GAGCTGGAGCGAGGCAATAGCGCCTTTAAGTCACCAGATGCGTTCAAGGTGTCCCTCCCACTCCGCACAAACTACCTATACGGCAAGATCAAGAAGACGCTGCCT
GAGCTGTACGCCTTCACCATCTGCCTGTGGCTGCGGTCCAGCGCCTCACCAGGCATTGGCACCCCCTTCTCCTATGCGGTGCCAGGGCAGGCCAACGAGATCGTG
CTGATCGAGTGGGGCAACAACCCCATCGAGCTGCTCATCAACGACAAGGTTGCGCAGCTGCCCCTGTTTGTCAGTGACGGCAAGTGGCACCACATCTGTGTCACC
TGGACGACACGGGATGGCATGTGGGAGGCATTCCAGGACGGAGAGAAGCTGGGCACTGGGGAGAACCTGGCCCCCTGGCACCCCATCAAGCCCGGGGGCGTGCTG
ATCCTTGGACAAGAGCAGGACACCGTGGGGGGTAGGTTTGATGCCACTCAGGCATTTGTCGGGGAGCTCAGCCAGTTCAACATATGGGACCGCGTCCTTCGCGCA
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>NPTX2|4885|protein
MLALLAASVALAVAAGAQDSPAPGSRFVCTALPPEAVHAGCPLPAMPMQGGAQSPEEELRAAVLQLRETVVQQKETLGAQREAIRELTGKLARCEGLAGGKARGA
GATGKDTMGDLPRDPGHVVEQLSRSLQTLKDRLESLEHQLRANVSNAGLPGDFREVLQQRLGELERQLLRKVAELEDEKSLLHNETSAHRQKTESTLNALLQRVT
ELERGNSAFKSPDAFKVSLPLRTNYLYGKIKKTLPELYAFTICLWLRSSASPGIGTPFSYAVPGQANEIVLIEWGNNPIELLINDKVAQLPLFVSDGKWHHICVT
WTTRDGMWEAFQDGEKLGTGENLAPWHPIKPGGVLILGQEQDTVGGRFDATQAFVGELSQFNIWDRVLRAQEIVNIANCSTNMPGNIIPWVDNNVDVFGGASKWP
VETCEERLLDL
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MLALLAASVALAVAAGAQDSPAPGSRFVCTALPPEAVHAGCPLPAMPMQGGAQSPEEELRAAVLQLRETVVQQKETLGAQREAIRELTGKLARCEGLAGGKARGA
GATGKDTMGDLPRDPGHVVEQLSRSLQTLKDRLESLEHQLRANVSNAGLPGDFREVLQQRLGELERQLLRKVAELEDEKSLLHNETSAHRQKTESTLNALLQRVT
ELERGNSAFKSPDAFKVSLPLRTNYLYGKIKKTLPELYAFTICLWLRSSASPGIGTPFSYAVPGQANEIVLIEWGNNPIELLINDKVAQLPLFVSDGKWHHICVT
WTTRDGMWEAFQDGEKLGTGENLAPWHPIKPGGVLILGQEQDTVGGRFDATQAFVGELSQFNIWDRVLRAQEIVNIANCSTNMPGNIIPWVDNNVDVFGGASKWP
VETCEERLLDL
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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) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 1 (1) | 12 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - |
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) |
|||||
ASIAN | |||||||||||
Marui, 2007_1 | Japan | ABI 7901HT sequence detection system | ASD | 20.8 (3-41) |
- | 214 (32.24%) |
34.6 (21-66) |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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