AutismKB 2.0

Annotation Detail for SIM1


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Basic Information Top
Gene Symbol:SIM1 ( bHLHe14 )
Gene Full Name: single-minded homolog 1 (Drosophila)
Band: 6q16.3
Quick LinksEntrez ID:6492; OMIM: 603128; Uniprot ID:SIM1_HUMAN; ENSEMBL ID: ENSG00000112246; HGNC ID: 10882
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
387Nuclear localization signal (By
Location(AA) Modifications Resource
Location(AA) Modification Resource
11Phosphothreonine(PKC)HMM predict
71Phosphoserine(IKK)HMM predict
71Phosphoserine(CDC2)HMM predict
115Phosphoserine(ATM)HMM predict
125PhosphotyrosineHMM predict
195Phosphoserine(CAMK2)HMM predict
216Phosphoserine(IKK)HMM predict
255Phosphotyrosine(Syk)HMM predict
255Phosphotyrosine(INSR)HMM predict
355O-linkedHMM predict
357O-linkedHMM predict
357O-linkedHMM predict
358O-linkedHMM predict
359Phosphoserine(CDC2)HMM predict
359O-linkedHMM predict
360O-linkedHMM predict
361Phosphothreonine(MAPK)HMM predict
361O-linkedHMM predict
363O-linkedHMM predict
376Phosphoserine(CK1)HMM predict
380Phosphoserine(CK1)HMM predict
380Phosphoserine(IKK)HMM predict
382Phosphoserine(IKK)HMM predict
385Phosphoserine(CDC2)HMM predict
398Phosphoserine(CK1)HMM predict
400Phosphoserine(ATM)HMM predict
400Phosphoserine(PKB)HMM predict
400Phosphoserine(CK1)HMM predict
428Phosphoserine(ATM)HMM predict
440Phosphoserine(PKB)HMM predict
502Phosphoserine(CDC2)HMM predict
509SulfotyrosineHMM predict
509Phosphotyrosine(Syk)HMM predict
536Phosphoserine(CDK)HMM predict
536Phosphoserine(CDC2)HMM predict
541Phosphoserine(IKK)HMM predict
543Phosphoserine(CK2)HMM predict
554SulfotyrosineHMM predict
557Phosphoserine(ATM)HMM predict
626N-linkedHMM predict
648Phosphotyrosine(Syk)HMM predict
648SulfotyrosineHMM predict
648Phosphotyrosine(EGFR)HMM predict
660Phosphoserine(ATM)HMM predict
667Phosphoserine(CK1)HMM predict
683Phosphoserine(ATM)HMM predict
735N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005068
  • Location:chr6 100943471-101018271
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 101019768 101019966 198 1596
CTCF G2GSE9613 101034094 101034345 251 15948
FOXA1 MCF7GSE15244 101037001 101037955 954 19207
FoxA1 MCF7MACSdata 101037314 101037611 297 19191
H3K27me3 colorectalcancer 101020070 101025056 4986 4292
H3K4me3 colorectalcancer 101020290 101020543 253 2145
H3K4me3 colorectalcancer 101020907 101021469 562 2917
Oct1 HelaGSE14283 101022296 101022331 35 4042
P300 T30-glioblastomaGSE21026 101027050 101027796 746 9152
PHF8 Hs68minusFBSGSE20725 101019146 101020220 1074 1412
RARA MCF7GSE15244 101037324 101037856 532 19319
STAT1 HeLaGSE12783 101027120 101028003 883 9290
hScc1 CdLSGSE12603 101033486 101034561 1075 15752
hScc1 G2GSE9613 101033592 101034415 823 15732
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100934325 100934641 316 8989
Oct1 H2O2-HelaGSE14283 100941869 100941906 37 1584
Oct1 HelaGSE14283 100941870 100941907 37 1583
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 101001801 101002065 264 0
CTCF G2GSE9613 101002772 101003411 639 0
CTCF G2GSE9613 101013071 101013246 175 0
CTCF G2GSE9613 101015371 101015551 180 0
CTCF G2GSE9613 101015840 101016191 351 0
H3K27me3 colorectalcancer 101017096 101019095 1999 0
Oct1 H2O2-HelaGSE14283 100944535 100944565 30 0
Oct1 HelaGSE14283 100944538 100944568 30 0
Oct1 HelaGSE14283 100990127 100990164 37 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
22966 EST chr6 100948895 100992081 43186 mRNA SIM1 chr6 100943470 101018272 Non-exonic Bidirectional (NOB) pairs

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


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