AutismKB 2.0

Annotation Detail for SMC3


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Basic Information Top
Gene Symbol:SMC3 ( BAM,BMH,CDLS3,CSPG6,HCAP,SMC3L1 )
Gene Full Name: structural maintenance of chromosomes 3
Band: 10q25.2
Quick LinksEntrez ID:9126; OMIM: 606062; Uniprot ID:SMC3_HUMAN; ENSEMBL ID: ENSG00000108055; HGNC ID: 2468
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
105N6-acetyllysine.
106N6-acetyllysine.
140N6-acetyllysine.
215N6-acetyllysine.
336N6-acetyllysine.
787Phosphoserine.
1013Phosphoserine (By similarity).
1065Phosphoserine.
1067Phosphoserine.
1074Phosphoserine.
1081Phosphoserine.
1083Phosphoserine.
1190N6-acetyllysine.
Location(AA) Modifications Resource
1013Phosphoserine (By similarity).Swiss-Prot 53.0
1065Phosphoserine.Swiss-Prot 53.0
1065PhosphoserinePhospho.ELM 6.0
1067Phosphoserine.Swiss-Prot 53.0
1067PhosphoserinePhospho.ELM 6.0
1074Phosphoserine.Swiss-Prot 53.0
1074PhosphoserinePhospho.ELM 6.0
1083Phosphoserine.Swiss-Prot 53.0
1083PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
34N-linkedHMM predict
40N-linkedHMM predict
54Phosphoserine(CK1)HMM predict
136Phosphotyrosine(Jak)HMM predict
137Phosphotyrosine(Jak)HMM predict
153Phosphoserine(ATM)HMM predict
202Phosphothreonine(PKC)HMM predict
228SulfotyrosineHMM predict
233N-linkedHMM predict
248Phosphothreonine(PKC)HMM predict
249Phosphoserine(CK1)HMM predict
383Phosphoserine(ATM)HMM predict
386Phosphothreonine(CK2)HMM predict
455Phosphotyrosine(Syk)HMM predict
455Phosphotyrosine(Jak)HMM predict
456Phosphotyrosine(Jak)HMM predict
600Phosphotyrosine(EGFR)HMM predict
647Phosphothreonine(PKC)HMM predict
671Phosphothreonine(PKC)HMM predict
734Phosphoserine(CK1)HMM predict
749Phosphoserine(PKG)HMM predict
749Phosphoserine(CAMK2)HMM predict
776Phosphoserine(PKG)HMM predict
790Phosphoserine(CK1)HMM predict
959Phosphothreonine(PKC)HMM predict
992N-linkedHMM predict
1065Phosphoserine(ATM)HMM predict
1067PhosphoserineHMM predict
1067Phosphoserine(ATM)HMM predict
1074Phosphoserine(CK2)HMM predict
1081PhosphoserineHMM predict
1081Phosphoserine(CK1)HMM predict
1081O-linkedHMM predict
1081Phosphoserine(IKK)HMM predict
1083Phosphoserine(IKK)HMM predict
1083O-linkedHMM predict
1083Phosphoserine(ATM)HMM predict
1086O-linkedHMM predict
1086Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005445
  • Location:chr10 112317438-112354379
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 112306813 112307143 330 10461
CTCF CD4SISSRdata 112306813 112307143 330 10461
E2F4 G0GSE7516 112316656 112317311 655 455
E2F4 SGSE7516 112316830 112317547 717 250
H3K4me3 colorectalcancer 112316722 112317093 371 531
H3ac HepG2E 112316541 112317129 588 604
LIN9 G0GSE7516 112316656 112317672 1016 275
LIN9 SGSE7516 112316693 112317606 913 289
Myc K562GSE19551 112316731 112317662 931 242
Oct1 H2O2-HelaGSE14283 112313717 112313749 32 3706
Oct1 HelaGSE14283 112313718 112313749 31 3705
P300 T0-glioblastomaGSE21026 112306827 112307306 479 10372
P300 T30-glioblastomaGSE21026 112316548 112317884 1336 223
RARA MCF7GSE15244 112316656 112317208 552 507
RARG MCF7GSE15244 112316656 112317208 552 507
Rb GrowingGSE19898 112316941 112317209 268 364
Rb QuiescentGSE19898 112316974 112317700 726 102
Rb SenescentGSE19898 112316884 112317809 925 92
TAF HelaGSE8489 112316505 112317093 588 640
USF1 HepG2E 112316427 112317424 997 513
USF2 HepG2E 112316505 112317424 919 474
p130 QuiescentGSE19898 112316904 112317584 680 195
p130 SenescentGSE19898 112316533 112317653 1120 346
p130 shRbQuiescentGSE19898 112316574 112317665 1091 319
p130 shRbSenescentGSE19898 112316628 112317875 1247 187
p130 G0GSE7516 112316656 112317726 1070 248
p130 SGSE7516 112316758 112317501 743 309
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 112360081 112360510 429 5916
CTCF CD4SISSRdata 112360081 112360510 429 5916
hScc1 BcellGSE12603 112359734 112360463 729 5719
hScc1 CdLSGSE12603 112359770 112360463 693 5737
hScc1 G2GSE9613 112359511 112360463 952 5608
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 112350266 112350531 265 0
CTCF CD4SISSRdata 112350266 112350531 265 0
ER E2-MCF7GSE14664 112332613 112332704 91 0
ER Fulvestrant-MCF7GSE14664 112331093 112331144 51 0
H3ac HepG2E 112317826 112319133 1307 0
Oct1 H2O2-HelaGSE14283 112318244 112318270 26 0
Oct1 HelaGSE14283 112318243 112318271 28 0
Oct1 HelaGSE14283 112320220 112320254 34 0
PHF8 293TGSE20725 112316979 112318468 1489 0
PHF8 HeLaGSE20725 112316777 112318208 1431 0
Rb GrowingGSE19898 112318065 112318361 296 0
Rb QuiescentGSE19898 112318115 112318310 195 0
Rb SenescentGSE19898 112317865 112318384 519 0
Rb shRbQuiescentGSE19898 112318025 112318369 344 0
USF1 HepG2E 112317826 112319133 1307 0
p130 shRbSenescentGSE19898 112317897 112318262 365 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


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