AutismKB 2.0

Annotation Detail for AIM1


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Basic Information Top
Gene Symbol:AIM1 ( CRYBG1,ST4 )
Gene Full Name: absent in melanoma 1
Band: 6q21
Quick LinksEntrez ID:202; OMIM: 601797; Uniprot ID:AIM1_HUMAN; ENSEMBL ID: ENSG00000112297; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75Phosphoserine.
525Phosphothreonine.
827Phosphoserine.
832Phosphoserine.
836Phosphoserine.
837Phosphoserine.
840Phosphoserine.
841Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
16Phosphoserine(PKA)HMM predict
16Phosphoserine(PKA)HMM predict
16Phosphoserine(PKC)HMM predict
16Phosphoserine(PKG)HMM predict
16Phosphoserine(CAMK2)HMM predict
16Phosphoserine(IKK)HMM predict
19Phosphoserine(IKK)HMM predict
50Phosphoserine(CK2)HMM predict
61Phosphoserine(CDC2)HMM predict
75Phosphoserine(CDC2)HMM predict
75Phosphoserine(MAPK)HMM predict
78O-linkedHMM predict
78Phosphoserine(IKK)HMM predict
81O-linkedHMM predict
81Phosphoserine(CDC2)HMM predict
81Phosphoserine(CDK)HMM predict
95Phosphoserine(CDK)HMM predict
103Phosphoserine(CDC2)HMM predict
103Phosphoserine(CDK)HMM predict
103PhosphoserineHMM predict
105O-linkedHMM predict
105Phosphothreonine(PKC)HMM predict
123O-linkedHMM predict
123O-linkedHMM predict
132Phosphoserine(CDC2)HMM predict
132Phosphoserine(CDK)HMM predict
132PhosphoserineHMM predict
141Phosphoserine(CDK)HMM predict
151Phosphoserine(PKG)HMM predict
151Phosphoserine(CK2)HMM predict
228O-linkedHMM predict
232Phosphothreonine(PKA)HMM predict
261Phosphoserine(ATM)HMM predict
282N-linkedHMM predict
283Phosphoserine(CK1)HMM predict
284Phosphoserine(CDC2)HMM predict
284Phosphoserine(CDK)HMM predict
296Phosphothreonine(PKA)HMM predict
296Phosphothreonine(MAPK)HMM predict
410Phosphoserine(CK2)HMM predict
422N-linkedHMM predict
442O-linkedHMM predict
442O-linkedHMM predict
452Phosphoserine(CK1)HMM predict
454Phosphoserine(ATM)HMM predict
456Phosphoserine(ATM)HMM predict
456Phosphoserine(IKK)HMM predict
460Phosphoserine(CK1)HMM predict
461O-linkedHMM predict
461PhosphoserineHMM predict
465O-linkedHMM predict
467O-linkedHMM predict
469Phosphoserine(ATM)HMM predict
525Phosphothreonine(MAPK)HMM predict
530Phosphothreonine(PKC)HMM predict
564Phosphoserine(ATM)HMM predict
648Phosphoserine(IKK)HMM predict
650O-linkedHMM predict
652Phosphoserine(CDC2)HMM predict
652Phosphoserine(CDK)HMM predict
655O-linkedHMM predict
661Phosphothreonine(CDK)HMM predict
693Phosphoserine(IKK)HMM predict
725Phosphoserine(CDC2)HMM predict
759Phosphoserine(PKG)HMM predict
759Phosphoserine(ATM)HMM predict
759Phosphoserine(IKK)HMM predict
849Phosphoserine(CDC2)HMM predict
849Phosphoserine(CDK)HMM predict
854O-linkedHMM predict
857O-linkedHMM predict
859O-linkedHMM predict
865Phosphoserine(ATM)HMM predict
867N-linkedHMM predict
869Phosphoserine(IKK)HMM predict
871Phosphoserine(ATM)HMM predict
873Phosphoserine(IKK)HMM predict
874O-linkedHMM predict
874O-linkedHMM predict
874Phosphoserine(IKK)HMM predict
876Phosphoserine(ATM)HMM predict
876Phosphoserine(IKK)HMM predict
879O-linkedHMM predict
879O-linkedHMM predict
907N-linkedHMM predict
914Phosphoserine(CDC2)HMM predict
918Phosphoserine(CDC2)HMM predict
918Phosphoserine(CDK)HMM predict
918Phosphoserine(IKK)HMM predict
931Phosphothreonine(CK2)HMM predict
1048Phosphoserine(IKK)HMM predict
1052Phosphoserine(CDC2)HMM predict
1087Phosphoserine(CK1)HMM predict
1087Phosphoserine(ATM)HMM predict
1253PhosphothreonineHMM predict
1293Phosphotyrosine(SRC)HMM predict
1384Phosphotyrosine(EGFR)HMM predict
1437Phosphoserine(CK2)HMM predict
1437Phosphoserine(ATM)HMM predict
1462N-linkedHMM predict
1466N-linkedHMM predict
1468Phosphotyrosine(INSR)HMM predict
1475Phosphotyrosine(EGFR)HMM predict
1500Phosphoserine(CK1)HMM predict
1561Phosphoserine(CDC2)HMM predict
1634S-palmitoylHMM predict
1668Phosphoserine(ATM)HMM predict
1672Phosphoserine(IKK)HMM predict
1697Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001624
  • Location:chr6 107066422-107125024
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 107051453 107051730 277 14831
E2F4 G0GSE7516 107064738 107065652 914 1228
ER E2-MCF7GSE14664 107056502 107056534 32 9905
ER E2-MCF7GSE14664 107059771 107059808 37 6633
LIN9 G0GSE7516 107064594 107065652 1058 1300
LIN9 SGSE7516 107065133 107065583 450 1065
Oct1 H2O2-HelaGSE14283 107046441 107046474 33 19965
Oct1 HelaGSE14283 107046427 107046474 47 19972
Oct1 HelaGSE14283 107062544 107062583 39 3859
Sox2 hESGSE18292 107049641 107050233 592 16486
p130 QuiescentGSE19898 107065133 107065548 415 1082
p130 SenescentGSE19898 107065075 107065587 512 1092
p130 shRbQuiescentGSE19898 107065141 107065549 408 1078
p130 shRbSenescentGSE19898 107064867 107065681 814 1149
p63 keratinocytesGSE17611 107051130 107052061 931 14827
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 107121180 107121510 330 0
CTCF CD4SISSRdata 107121180 107121510 330 0
CTCF G2GSE9613 107066050 107067630 1580 0
CTCF G2GSE9613 107120979 107121454 475 0
ER Fulvestrant-MCF7GSE14664 107119921 107119972 51 0
Gata2 K562GSE18868 107075281 107075870 589 0
H3K4me3 colorectalcancer 107067530 107068282 752 0
H3ac HepG2E 107067966 107068636 670 0
Oct1 HelaGSE14283 107119925 107119964 39 0
P300 T30-glioblastomaGSE21026 107073844 107074820 976 0
hScc1 BcellGSE12603 107066302 107067572 1270 0
hScc1 BcellGSE12603 107120826 107121526 700 0
hScc1 CdLSGSE12603 107066623 107067750 1127 0
hScc1 CdLSGSE12603 107110674 107111090 416 0
hScc1 CdLSGSE12603 107120979 107121634 655 0
hScc1 G2GSE9613 107120979 107121491 512 0
p130 SenescentGSE19898 107074067 107074752 685 0
p130 SenescentGSE19898 107082641 107083163 522 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
22986 mRNA AIM1 chr6 107095701 107113098 113 mRNA chr6 107107581 107109812Sense/Antisense (SA) 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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