AutismKB 2.0

Annotation Detail for SAE1


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Basic Information Top
Gene Symbol:SAE1 ( AOS1,FLJ3091,HSPC140,SUA1,UBLE1A )
Gene Full Name: SUMO1 activating enzyme subunit 1
Band: 19q13.32
Quick LinksEntrez ID:10055; OMIM: 613294; Uniprot ID:SAE1_HUMAN; ENSEMBL ID: ENSG00000142230; HGNC ID: 30660
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
185Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
194Phosphothreonine(PKC)HMM predict
201Phosphoserine(CK1)HMM predict
262Phosphotyrosine(INSR)HMM predict
262Phosphotyrosine(Syk)HMM predict
334MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005500
  • Location:chr19 52325983-52405370
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 52320334 52320646 312 5494
CTCF CD4GSE12889 52325758 52326087 329 61
CTCF CD4SISSRdata 52320334 52320646 312 5494
CTCF CD4SISSRdata 52325758 52326087 329 61
FOXA1 MCF7GSE15244 52308219 52309281 1062 17234
H3K4me2 HCT116GSE10453 52308659 52309468 809 16920
H3K4me3 colorectalcancer 52306425 52306729 304 19407
H3ac HepG2E 52308052 52309468 1416 17224
HIF1 NormHepG2 52325561 52326325 764 41
Nanog hESGSE18292 52320319 52320710 391 5469
PHF8 Hs68plusFBSGSE20725 52306958 52308991 2033 18009
Rb GrowingGSE19898 52308505 52308745 240 17359
Rb QuiescentGSE19898 52325888 52326060 172 10
Rb SenescentGSE19898 52307868 52308824 956 17638
Rb shRbSenescenceGSE19898 52308193 52308325 132 17725
Sox2 hESGSE18292 52320300 52320553 253 5557
TAF k562GSE8489 52308255 52309281 1026 17216
TFAP2C MCF7GSE21234 52307951 52308628 677 17694
TFAP2C MCF7GSE21234 52308649 52309794 1145 16762
TFAP2C MCF7GSE21234 52325494 52326137 643 168
USF1 HepG2E 52308031 52309468 1437 17234
USF2 HepG2E 52307830 52309468 1638 17335
hScc1 BcellGSE12603 52306979 52307250 271 18869
hScc1 BcellGSE12603 52320161 52320449 288 5679
p130 SenescentGSE19898 52308223 52308934 711 17405
p130 shRbQuiescentGSE19898 52307676 52308305 629 17993
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 52405784 52406214 430 629
CTCF CD4SISSRdata 52405784 52406214 430 629
CTCF G2GSE9613 52405766 52406163 397 594
Myc K562GSE19551 52405595 52406198 603 526
hScc1 BcellGSE12603 52405732 52406163 431 577
hScc1 CdLSGSE12603 52405732 52406163 431 577
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 52344653 52344877 224 0
CTCF CD4GSE12889 52381912 52382246 334 0
CTCF CD4SISSRdata 52344653 52344877 224 0
CTCF CD4SISSRdata 52381912 52382246 334 0
CTCF G2GSE9613 52325850 52326761 911 0
E2F4 G0GSE7516 52325880 52326761 881 0
FOXA1 MCF7GSE15244 52347020 52347921 901 0
FOXA1 MCF7GSE15244 52385178 52386050 872 0
FoxA1 MCF7MACSdata 52347361 52347581 220 0
H3K4me2 HCT116GSE10453 52328006 52328290 284 0
H3K4me3 colorectalcancer 52326019 52326761 742 0
H3ac HepG2E 52326081 52326761 680 0
H3ac HepG2E 52328006 52328290 284 0
H3ac HepG2E 52329274 52330033 759 0
H3ac HepG2E 52383469 52384226 757 0
LIN54 G0GSE7516 52325917 52326761 844 0
LIN9 G0GSE7516 52325776 52326761 985 0
LIN9 SGSE7516 52325984 52326761 777 0
Myc hESGSE17917 52325897 52326298 401 0
P300 T30-glioblastomaGSE21026 52384833 52386401 1568 0
PHF8 HeLaGSE20725 52325478 52326661 1183 0
RARA MCF7GSE15244 52346913 52348492 1579 0
RARA MCF7GSE15244 52385016 52386071 1055 0
Rb GrowingGSE19898 52325909 52326262 353 0
Rb GrowingGSE19898 52326266 52326439 173 0
Rb QuiescentGSE19898 52326109 52326530 421 0
Rb SenescentGSE19898 52325569 52326523 954 0
TAF HelaGSE8489 52326019 52326761 742 0
TAF k562GSE8489 52325320 52326761 1441 0
TAF k562GSE8489 52328639 52328920 281 0
TAF k562GSE8489 52341897 52342265 368 0
TFAP2C MCF7GSE21234 52347235 52348099 864 0
USF1 HepG2E 52325251 52326761 1510 0
USF2 HepG2E 52325251 52326761 1510 0
hScc1 BcellGSE12603 52325850 52326431 581 0
hScc1 BcellGSE12603 52394527 52394835 308 0
p130 QuiescentGSE19898 52325658 52326792 1134 0
p130 SenescentGSE19898 52325633 52326782 1149 0
p130 SenescentGSE19898 52352925 52353122 197 0
p130 shRbQuiescentGSE19898 52325749 52326753 1004 0
p130 shRbSenescentGSE19898 52325716 52326795 1079 0
p130 G0GSE7516 52325880 52326761 881 0
p130 SGSE7516 52325776 52326761 985 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
13392 mRNA SAE1 chr19 52325983 52405372 312 EST chr19 52398654 52404636Sense/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