AutismKB 2.0

Evidence Details for PLEKHG1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PLEKHG1 ( ARHGEF41,FLJ31738,KIAA1209 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Band: 6q25.1
Quick LinksEntrez ID:57480; OMIM: NA; Uniprot ID:PKHG1_HUMAN; ENSEMBL ID: ENSG00000120278; HGNC ID: 20884
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHG1|57480|nucleotide
ATGGAGCTCTCTGATAGTGACCGACCCGTCAGCTTCGGTTCCACATCATCCTCGGCCTCTTCCCGCGACAGCCATGGTTCCTTCGGCAGCAGAATGACCTTAGTT
TCAAATAGCCACATGGGCTTGTTTAACCAGGATAAGGAGGTAGGGGCCATAAAACTGGAGCTGATTCCTGCCAGGCCGTTTTCCAGCAGCGAGCTGCAGAGGGAC
AACCCCGCCACGGGGCAACAGAACGCGGATGAGGGCAGCGAAAGGCCACCCAGAGCGCAGTGGAGAGTGGACTCAAACGGGGCACCCAAGACGATCGCAGACTCG
GCCACGAGCCCCAAGCTCCTCTATGTGGATAGAGTTGTTCAGGAAATTCTGGAAACCGAAAGGACTTATGTACAAGATTTAAAAAGCATCGTAGAGGATTACCTT
GACTGCATCAGGGACCAAACAAAACTTCCCCTGGGGACCGAAGAAAGATCAGCCCTTTTTGGAAACATACAGGATATCTACCACTTCAATAGTGAACTTCTGCAA
GATTTGGAAAACTGTGAAAATGATCCTGTGGCCATAGCAGAGTGTTTTGTGTCCAAGAGTGAAGAGTTCCACATTTATACCCAGTATTGCACTAACTATCCAAGG
TCCGTGGCTGTGCTAACAGAGTGTATGAGGAACAAGATACTGGCCAAATTCTTCAGGGAGCGTCAGGAAACTCTGAAACACTCGCTGCCTCTGGGGTCCTATCTC
TTGAAACCAGTTCAGCGGATTCTCAAGTATCATCTCCTTCTGCATGAAATAGAAAACCACCTTGATAAGGACACAGAAGGCTATGATGTGGTGCTTGATGCTATA
GACACAATGCAGCGAGTCGCCTGGCATATCAATGACATGAAGCGGAAACACGAGCACGCGGTCCGGTTACAGGAGATACAGAGTTTGCTCACTAACTGGAAGGGG
CCAGACCTGACCAGCTACGGGGAACTGGTGCTTGAGGGAACCTTCCGCATCCAGCGAGCCAAGAATGAGCGGACGCTCTTCCTCTTCGACAAGCTGCTGCTCATC
ACGAAGAAGAGAGATGACACGTTTACATACAAAGCTCACATCCTGTGTGGCAACCTCATGCTTGTGGAGGTGATTCCAAAAGAGCCGCTCAGCTTCAGCGTCTTC
Show »

>PLEKHG1|57480|protein
MELSDSDRPVSFGSTSSSASSRDSHGSFGSRMTLVSNSHMGLFNQDKEVGAIKLELIPARPFSSSELQRDNPATGQQNADEGSERPPRAQWRVDSNGAPKTIADS
ATSPKLLYVDRVVQEILETERTYVQDLKSIVEDYLDCIRDQTKLPLGTEERSALFGNIQDIYHFNSELLQDLENCENDPVAIAECFVSKSEEFHIYTQYCTNYPR
SVAVLTECMRNKILAKFFRERQETLKHSLPLGSYLLKPVQRILKYHLLLHEIENHLDKDTEGYDVVLDAIDTMQRVAWHINDMKRKHEHAVRLQEIQSLLTNWKG
PDLTSYGELVLEGTFRIQRAKNERTLFLFDKLLLITKKRDDTFTYKAHILCGNLMLVEVIPKEPLSFSVFHYKNPKLQHTVQAKSQQDKRLWVLHLKRLILENHA
AKIPAKAKQAILEMDAIHHPGFCYSPEGGTKALFGSKEGSAPYRLRRKSEPSSRSHKVLKTSETAQDIQKVSREEGSPQLSSARPSPAQRNSQPSSSTMISVLRA
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 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top