AutismKB 2.0

Annotation Detail for SASH1


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Basic Information Top
Gene Symbol:SASH1 ( KIAA0790,RP3-323M4.1,SH3D6A,dJ323M4,dJ323M4.1 )
Gene Full Name: SAM and SH3 domain containing 1
Band: 6q24.3-q25.1
Quick LinksEntrez ID:23328; OMIM: 607955; Uniprot ID:SASH1_HUMAN; ENSEMBL ID: ENSG00000111961; HGNC ID: 19182
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90Phosphoserine.
731Phosphoserine (By similarity).
821Phosphoserine (By similarity).
839Phosphoserine (By similarity).
Location(AA) Modifications Resource
90Phosphoserine.Swiss-Prot 53.0
90PhosphoserinePhospho.ELM 6.0
821Phosphoserine (By similarity).Swiss-Prot 53.0
839Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
66Phosphotyrosine(Syk)HMM predict
90Phosphoserine(PKA)HMM predict
90Phosphoserine(PKG)HMM predict
90Phosphoserine(CAMK2)HMM predict
90Phosphoserine(PKA)HMM predict
137Phosphoserine(CK1)HMM predict
185Phosphoserine(CK2)HMM predict
240Phosphoserine(IKK)HMM predict
244Phosphoserine(CK1)HMM predict
248Phosphoserine(CK2)HMM predict
248Phosphoserine(CK1)HMM predict
266N-linkedHMM predict
320Phosphoserine(CDC2)HMM predict
331Phosphoserine(CK1)HMM predict
331Phosphoserine(IKK)HMM predict
333O-linkedHMM predict
335Phosphoserine(MAPK)HMM predict
335Phosphoserine(IKK)HMM predict
335Phosphoserine(ATM)HMM predict
335Phosphoserine(CDC2)HMM predict
335Phosphoserine(CDK)HMM predict
339Phosphoserine(CK1)HMM predict
340Phosphoserine(CK1)HMM predict
375SulfotyrosineHMM predict
423N-linkedHMM predict
424N-linkedHMM predict
436Phosphotyrosine(EGFR)HMM predict
442Phosphoserine(CDC2)HMM predict
449Phosphoserine(PKC)HMM predict
460Phosphothreonine(PKC)HMM predict
486Phosphoserine(ATM)HMM predict
486O-linkedHMM predict
490Phosphoserine(ATM)HMM predict
490O-linkedHMM predict
513Phosphoserine(CK1)HMM predict
514Phosphoserine(CK1)HMM predict
514Phosphoserine(IKK)HMM predict
516Phosphoserine(ATM)HMM predict
516Phosphoserine(CK2)HMM predict
520Phosphoserine(IKK)HMM predict
522O-linkedHMM predict
522Phosphoserine(CK1)HMM predict
527Phosphoserine(IKK)HMM predict
527O-linkedHMM predict
528O-linkedHMM predict
529O-linkedHMM predict
531Phosphoserine(IKK)HMM predict
538Phosphoserine(PKG)HMM predict
538Phosphoserine(CK2)HMM predict
541PhosphoserineHMM predict
568Phosphoserine(CDC2)HMM predict
609Phosphotyrosine(EGFR)HMM predict
614Phosphoserine(CK1)HMM predict
624Phosphothreonine(PKC)HMM predict
637Phosphoserine(IKK)HMM predict
659Phosphotyrosine(Syk)HMM predict
706Phosphoserine(ATM)HMM predict
718Phosphoserine(IKK)HMM predict
739Phosphothreonine(PKC)HMM predict
743Phosphoserine(PKG)HMM predict
743Phosphoserine(CAMK2)HMM predict
750Phosphoserine(PKG)HMM predict
751Phosphothreonine(PKC)HMM predict
817Phosphoserine(IKK)HMM predict
839Phosphoserine(IKK)HMM predict
872O-linkedHMM predict
875Phosphoserine(CDC2)HMM predict
901Phosphoserine(CK1)HMM predict
923Phosphoserine(IKK)HMM predict
946Phosphothreonine(CDK)HMM predict
1008O-linkedHMM predict
1013Phosphoserine(MAPK)HMM predict
1025Phosphoserine(CDC2)HMM predict
1028Phosphoserine(CDC2)HMM predict
1028Phosphoserine(MAPK)HMM predict
1028Phosphoserine(IKK)HMM predict
1030O-linkedHMM predict
1031Phosphoserine(IKK)HMM predict
1033O-linkedHMM predict
1045Phosphoserine(IKK)HMM predict
1045O-linkedHMM predict
1051Phosphoserine(IKK)HMM predict
1051O-linkedHMM predict
1051Phosphoserine(ATM)HMM predict
1051Phosphoserine(CDC2)HMM predict
1054O-linkedHMM predict
1067N-linkedHMM predict
1082Phosphothreonine(PKC)HMM predict
1086Phosphoserine(PKG)HMM predict
1086Phosphoserine(PKC)HMM predict
1114Phosphoserine(ATM)HMM predict
1200O-linkedHMM predict
1207Phosphoserine(ATM)HMM predict
1233SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015278
  • Location:chr6 148705421-148914876
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 148704867 148705221 354 378
H3ac HepG2E 148704461 148705602 1141 390
Rb SenescentGSE19898 148704996 148705435 439 206
TFAP2C MCF7GSE21234 148705013 148705783 770 24
USF1 HepG2E 148704832 148705673 841 169
USF2 HepG2E 148704308 148705705 1397 415
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 148922649 148922960 311 7928
CTCF CD4SISSRdata 148922649 148922960 311 7928
CTCF HelaGSE12889 148922577 148922889 312 7857
CTCF G2GSE9613 148922190 148923188 998 7813
CTCF G2GSE9613 148924431 148924748 317 9713
CTCF G2GSE9613 148928931 148929087 156 14133
CTCF G2GSE9613 148933327 148933612 285 18593
Myc hESGSE17917 148922710 148922892 182 7925
Oct1 HelaGSE14283 148918465 148918498 33 3605
Oct1 HelaGSE14283 148921396 148921434 38 6539
P300 T30-glioblastomaGSE21026 148929061 148929795 734 14552
hScc1 BcellGSE12603 148922359 148923153 794 7880
hScc1 CdLSGSE12603 148922359 148923153 794 7880
hScc1 G2GSE9613 148922132 148923116 984 7748
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 148770048 148770643 595 0
CBP T30-glioblastomaGSE21026 148863745 148864626 881 0
CBP T30-glioblastomaGSE21026 148872512 148873421 909 0
CTCF CD4GSE12889 148827585 148827853 268 0
CTCF CD4SISSRdata 148827585 148827853 268 0
CTCF G2GSE9613 148705705 148706153 448 0
CTCF G2GSE9613 148779697 148779995 298 0
CTCF G2GSE9613 148810411 148810706 295 0
CTCF G2GSE9613 148818534 148819071 537 0
CTCF G2GSE9613 148827455 148827946 491 0
CTCF G2GSE9613 148891189 148891500 311 0
CTCF G2GSE9613 148907091 148907615 524 0
ER E2-MCF7GSE14664 148818401 148818434 33 0
ER Fulvestrant-MCF7GSE14664 148740297 148740331 34 0
ER MCF7GSE19013 148768680 148769213 533 0
FOXA1 MCF7GSE15244 148706073 148706889 816 0
FOXA1 MCF7GSE15244 148707894 148708671 777 0
FoxA1 MCF7MACSdata 148708079 148708544 465 0
H3ac HepG2E 148706186 148706926 740 0
Myc K562GSE19551 148893287 148893630 343 0
Nanog ESGSE20650 148913364 148913689 325 0
Oct1 H2O2-HelaGSE14283 148719356 148719383 27 0
Oct1 H2O2-HelaGSE14283 148808711 148808752 41 0
Oct1 H2O2-HelaGSE14283 148824038 148824066 28 0
Oct1 H2O2-HelaGSE14283 148905526 148905563 37 0
Oct1 HelaGSE14283 148724762 148724830 68 0
Oct1 HelaGSE14283 148726903 148726934 31 0
Oct1 HelaGSE14283 148727554 148727587 33 0
Oct1 HelaGSE14283 148731468 148731506 38 0
Oct1 HelaGSE14283 148740298 148740331 33 0
Oct1 HelaGSE14283 148747587 148747655 68 0
Oct1 HelaGSE14283 148754829 148754860 31 0
Oct1 HelaGSE14283 148808709 148808749 40 0
Oct1 HelaGSE14283 148831910 148831960 50 0
Oct1 HelaGSE14283 148832327 148832360 33 0
Oct1 HelaGSE14283 148847644 148847707 63 0
Oct1 HelaGSE14283 148857439 148857480 41 0
Oct1 HelaGSE14283 148886172 148886201 29 0
Oct1 HelaGSE14283 148905526 148905563 37 0
Oct1 HelaGSE14283 148912776 148912805 29 0
P300 T30-glioblastomaGSE21026 148705222 148705961 739 0
P300 T30-glioblastomaGSE21026 148769957 148770615 658 0
P300 T30-glioblastomaGSE21026 148863495 148864779 1284 0
P300 T30-glioblastomaGSE21026 148872556 148873310 754 0
RNAII Tamoxifen-MCF7GSE14664 148771147 148771201 54 0
STAT1 HeLaGSE12783 148756896 148757767 871 0
STAT1 IFNSISSRdata 148756982 148757471 489 0
Stat6 IL-4-hr4GSE17850 148882415 148883002 587 0
TFAP2C MCF7GSE21234 148752008 148752335 327 0
hScc1 BcellGSE12603 148827338 148827910 572 0
hScc1 BcellGSE12603 148907224 148907648 424 0
hScc1 BcellGSE12603 148908911 148909059 148 0
hScc1 CdLSGSE12603 148751056 148751245 189 0
hScc1 CdLSGSE12603 148827374 148828073 699 0
hScc1 G2GSE9613 148827374 148828073 699 0
hScc1 G2GSE9613 148891189 148891500 311 0
p130 QuiescentGSE19898 148871335 148871593 258 0
p130 SenescentGSE19898 148872746 148873283 537 0
p130 shRbQuiescentGSE19898 148871965 148872767 802 0
p130 shRbQuiescentGSE19898 148901167 148901778 611 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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