AutismKB 2.0

Evidence Details for BPNT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BPNT1 ( PIP )
Gene Full Name: 3'(2'), 5'-bisphosphate nucleotidase 1
Band: 1q41
Quick LinksEntrez ID:10380; OMIM: 604053; Uniprot ID:BPNT1_HUMAN; ENSEMBL ID: ENSG00000162813; HGNC ID: 1096
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BPNT1|10380|nucleotide
ATGGCTTCCAGTAACACTGTGTTGATGCGGTTGGTAGCCTCCGCATATTCTATTGCTCAAAAGGCAGGAATGATAGTCAGACGTGTTATTGCTGAAGGAGACCTG
GGTATTGTGGAGAAGACCTGTGCAACAGACCTGCAGACCAAAGCTGACCGATTGGCACAGATGAGCATATGTTCTTCATTGGCCCGGAAATTCCCCAAACTCACA
ATTATAGGGGAAGAGGATCTGCCTTCTGAGGAAGTGGATCAAGAGCTGATTGAAGACAGTCAGTGGGAAGAAATACTGAAGCAACCATGCCCATCGCAGTACAGT
GCTATTAAAGAAGAAGATCTCGTGGTCTGGGTTGATCCTCTGGATGGAACCAAGGAATATACCGAAGGTCTTCTTGACAATGTAACAGTTCTTATTGGAATTGCT
TATGAAGGAAAAGCCATAGCAGGAGTTATTAACCAGCCATATTACAACTATGAGGCAGGACCAGATGCTGTGTTGGGGAGGACAATCTGGGGAGTTTTAGGTTTA
GGCGCCTTTGGGTTTCAGCTGAAAGAAGTCCCTGCTGGGAAACACATTATCACAACTACTCGATCCCATAGCAACAAGTTGGTTACTGACTGTGTTGCTGCTATG
AACCCCGATGCTGTGCTGCGAGTAGGAGGAGCAGGAAATAAGATTATTCAGCTGATTGAAGGCAAAGCCTCTGCTTATGTATTTGCAAGTCCTGGTTGTAAGAAG
TGGGATACTTGTGCTCCAGAAGTTATTTTACATGCTGTGGGAGGCAAGTTAACCGATATCCATGGGAATGTTCTTCAGTACCACAAGGATGTGAAGCATATGAAC
TCTGCAGGAGTCCTGGCCACACTGAGGAATTATGACTACTATGCAAGCCGAGTTCCAGAATCTATTAAAAATGCACTTGTTCCTTAA


Show »

>BPNT1|10380|protein
MASSNTVLMRLVASAYSIAQKAGMIVRRVIAEGDLGIVEKTCATDLQTKADRLAQMSICSSLARKFPKLTIIGEEDLPSEEVDQELIEDSQWEEILKQPCPSQYS
AIKEEDLVVWVDPLDGTKEYTEGLLDNVTVLIGIAYEGKAIAGVINQPYYNYEAGPDAVLGRTIWGVLGLGAFGFQLKEVPAGKHIITTTRSHSNKLVTDCVAAM
NPDAVLRVGGAGNKIIQLIEGKASAYVFASPGCKKWDTCAPEVILHAVGGKLTDIHGNVLQYHKDVKHMNSAGVLATLRNYDYYASRVPESIKNALVP


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 (0) 0 (0) 0 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top