AutismKB 2.0

Evidence Details for RAB11FIP2


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Basic Information Top
Gene Symbol:RAB11FIP2 ( KIAA0941,Rab11-FIP2,nRip11 )
Gene Full Name: RAB11 family interacting protein 2 (class I)
Band: 10q26.11
Quick LinksEntrez ID:22841; OMIM: 608599; Uniprot ID:RFIP2_HUMAN; ENSEMBL ID: ENSG00000107560; HGNC ID: 29152
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAB11FIP2|22841|nucleotide
ATGATGCTGTCCGAGCAAGCCCAAAAGTGGTTTCCAACCCACGTGCAGGTCACAGTGCTCCAAGCCAAAGATCTGAAGCCAAAAGGCAAAAGTGGTACCAATGAC
ACATACACTATAATTCAGCTGGGCAAGGAAAAGTACTCCACCTCTGTAGCTGAGAAAACCCTTGAGCCAGTTTGGAAGGAGGAGGCCTCTTTCGAGCTACCTGGA
TTGCTAATTCAGGGAAGTCCAGAGAAATACATTCTTTTCCTTATAGTTATGCACAGGTCCCTGGTGGGTCTGGATAAATTTTTAGGGCAGGTGGCAATCAATCTC
AATGACATCTTTGAGGACAAACAAAGAAGGAAAACAGAGTGGTTTAGATTAGAATCCAAACAAGGAAAACGAATCAAAAACAGGGGTGAGATAAAGGTCAATATT
CAGTTTATGAGGAACAATATGACCGCAAGTATGTTTGACTTATCAATGAAGGACAAAACCAGATCTCCTTTTGCAAAGTTAAAAGATAAGATGAAGGGTAGAAAA
AATGATGGAACATTTTCTGATACGTCTTCTGCAATCATTCCAAGTACTCACATGCCCGATGCCAATAGTGAATTTTCAAGTGGTGAAATACAGATGAAATCCAAA
CCAAAAAAGCCTTTTCTCTTGGGTCCTCAGCGACTCTCGTCAGCGCATTCAATGTCTGATTTATCTGGGTCCCATATGTCTTCTGAGAAACTGAAGGCTGGCACC
ATAGGTCAAACACATCTTCTCGGACACCAGTTAGATTCCTTTGGAACAGTTCCAGAAAGTGGAAGTCTCAAATCTCCACACAGAAGAACATTAAGCTTTGATACT
TCTAAAATGAACCAACCTGACAGCATTGTGGATGAAGGTGAATTGTGTTTCGGAAGACAAAATGACCCATTTACAAATGTGACTGCTTCATTACCCCAAAAATTT
GCAACACTGCCAAGGAAGAAAAATCCATTTGAAGAAAGCAGCGAAACATGGGACAGCAGCATGAATTTATTTTCAAAACCAATTGAAATAAGAAAAGAAAATAAA
AGAGAGAAAAGGGAGAAAGTTAGCCTGTTTGAAAGAGTGACTGGAAAAAAAGATAGCAGAAGATCTGATAAACTTAACAATGGGGGATCTGATAGCCCTTGTGAC
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>RAB11FIP2|22841|protein
MMLSEQAQKWFPTHVQVTVLQAKDLKPKGKSGTNDTYTIIQLGKEKYSTSVAEKTLEPVWKEEASFELPGLLIQGSPEKYILFLIVMHRSLVGLDKFLGQVAINL
NDIFEDKQRRKTEWFRLESKQGKRIKNRGEIKVNIQFMRNNMTASMFDLSMKDKTRSPFAKLKDKMKGRKNDGTFSDTSSAIIPSTHMPDANSEFSSGEIQMKSK
PKKPFLLGPQRLSSAHSMSDLSGSHMSSEKLKAGTIGQTHLLGHQLDSFGTVPESGSLKSPHRRTLSFDTSKMNQPDSIVDEGELCFGRQNDPFTNVTASLPQKF
ATLPRKKNPFEESSETWDSSMNLFSKPIEIRKENKREKREKVSLFERVTGKKDSRRSDKLNNGGSDSPCDLKSPNAFSENRQDYFDYESTNPFTAKFRASNIMPS
SSFHMSPTSNEDLRKIPDSNPFDATAGYRSLTYEEVLQELVKHKELLRRKDTHIRELEDYIDNLLVRVMEETPSILRVPYEPSRKAGKFSNS
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
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
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018