AutismKB 2.0

Annotation Detail for SAMM50


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Basic Information Top
Gene Symbol:SAMM50 ( FLJ35825,FLJ42905,FLJ99036,OMP85,SAM50,TOB55,TRG-3,YNL026W )
Gene Full Name: sorting and assembly machinery component 50 homolog (S. cerevisiae)
Band: 22q13.31
Quick LinksEntrez ID:25813; OMIM: 612058; Uniprot ID:SAM50_HUMAN; ENSEMBL ID: ENSG00000100347; HGNC ID: 24276
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
243Phosphoserine(PKA)HMM predict
243Phosphoserine(PKB)HMM predict
253Phosphoserine(IKK)HMM predict
268N-linkedHMM predict
288Phosphotyrosine(INSR)HMM predict
361Phosphotyrosine(INSR)HMM predict
361Phosphotyrosine(Jak)HMM predict
468PhenylalanineHMM predict
469PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015380
  • Location:chr22 42682633-42723743
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 42679555 42679821 266 2946
PHF8 Hs68minusFBSGSE20725 42681960 42683195 1235 56
Rb SenescentGSE19898 42682178 42682974 796 58
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 42720374 42720701 327 0
CTCF CD4SISSRdata 42720374 42720701 327 0
CTCF HelaGSE12889 42720339 42720618 279 0
CTCF G2GSE9613 42720268 42721385 1117 0
ER Breast-CancerGSE22609 42697251 42697980 729 0
ETS1 JurkatGSE17954 42681952 42683429 1477 0
FOXA1 MCF7GSE15244 42684179 42684566 387 0
Fos K562GSE19551 42712646 42713111 465 0
Gata1 K562GSE18868 42696706 42697243 537 0
Gata2 K562GSE18868 42696542 42697267 725 0
Myc K562GSE19551 42712682 42713190 508 0
P300 T30-glioblastomaGSE21026 42682032 42683567 1535 0
PHF8 293TGSE20725 42681875 42683395 1520 0
PHF8 HeLaGSE20725 42681853 42683426 1573 0
TAF k562GSE8489 42684179 42684497 318 0
hScc1 BcellGSE12603 42719643 42720836 1193 0
hScc1 BcellGSE12603 42723294 42723837 543 0
hScc1 CdLSGSE12603 42720374 42721124 750 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (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