AutismKB 2.0

Annotation Detail for SYNGAP1


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Basic Information Top
Gene Symbol:SYNGAP1 ( DKFZp761G1421,KIAA1938,MRD5,RASA1,RASA5,SYNGAP )
Gene Full Name: synaptic Ras GTPase activating protein 1
Band: 6p21.32
Quick LinksEntrez ID:8831; OMIM: 603384; Uniprot ID:SYGP1_HUMAN; ENSEMBL ID: ENSG00000197283; HGNC ID: 11497
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
815SH3-binding (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
61Phosphoserine(PKB)HMM predict
72Phosphoserine(PKG)HMM predict
72Phosphoserine(PKB)HMM predict
94PhosphoserineHMM predict
94Phosphoserine(PKB)HMM predict
94Phosphoserine(PKA)HMM predict
94Phosphoserine(PKC)HMM predict
94Phosphoserine(PKG)HMM predict
94Phosphoserine(IKK)HMM predict
131Phosphoserine(PKA)HMM predict
167Phosphoserine(CK1)HMM predict
173Phosphoserine(CDC2)HMM predict
173Phosphoserine(MAPK)HMM predict
211O-linkedHMM predict
281Phosphoserine(CAMK2)HMM predict
281Phosphoserine(CK1)HMM predict
281Phosphoserine(IKK)HMM predict
281PhosphoserineHMM predict
281Phosphoserine(PKB)HMM predict
287Phosphoserine(IKK)HMM predict
327Phosphotyrosine(Jak)HMM predict
356O-linkedHMM predict
359O-linkedHMM predict
370O-linkedHMM predict
393Phosphothreonine(PKC)HMM predict
517O-linkedHMM predict
620N-linkedHMM predict
660N-linkedHMM predict
667Phosphotyrosine(INSR)HMM predict
667Phosphotyrosine(Syk)HMM predict
720PhosphoserineHMM predict
743Phosphotyrosine(Syk)HMM predict
773Phosphoserine(CDC2)HMM predict
773Phosphoserine(PKB)HMM predict
773Phosphoserine(CDK)HMM predict
802O-linkedHMM predict
807O-linkedHMM predict
841N-linkedHMM predict
843Phosphoserine(CDC2)HMM predict
847N-linkedHMM predict
858Phosphoserine(ATM)HMM predict
877Phosphoserine(PKG)HMM predict
877Phosphoserine(ATM)HMM predict
880O-linkedHMM predict
940O-linkedHMM predict
1018Phosphoserine(ATM)HMM predict
1032O-linkedHMM predict
1079Phosphoserine(CDC2)HMM predict
1079Phosphoserine(CDK)HMM predict
1084Phosphotyrosine(SRC)HMM predict
1093Phosphoserine(PKG)HMM predict
1095Phosphoserine(CK1)HMM predict
1123Phosphoserine(IKK)HMM predict
1125Phosphothreonine(CDK)HMM predict
1125Phosphothreonine(MAPK)HMM predict
1127Phosphoserine(IKK)HMM predict
1130N-linkedHMM predict
1163Phosphotyrosine(Jak)HMM predict
1189Phosphoserine(CK1)HMM predict
1210Phosphoserine(PKG)HMM predict
1210Phosphoserine(CK1)HMM predict
1210Phosphoserine(ATM)HMM predict
1295Phosphothreonine(PKC)HMM predict
1310ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006772
  • Location:chr6 33495824-33529442
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP GMOGSE8489 33495218 33495735 517 348
GABP HepG2GSE8489 33495400 33495735 335 257
H3ac HepG2E 33494973 33495639 666 519
SRF GMOGSE8489 33495182 33495735 553 366
SRF HepG2GSE8489 33495218 33495735 517 348
TAF k562GSE8489 33495145 33495533 388 486
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 33528897 33530107 1210 60
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 33501673 33501959 286 0
CTCF CD4SISSRdata 33501673 33501959 286 0
CTCF G2GSE9613 33499776 33500070 294 0
CTCF G2GSE9613 33500500 33500727 227 0
CTCF G2GSE9613 33501549 33502000 451 0
CTCF G2GSE9613 33504028 33504580 552 0
CTCF G2GSE9613 33506857 33507094 237 0
CTCF G2GSE9613 33507882 33508578 696 0
CTCF G2GSE9613 33508831 33509123 292 0
CTCF G2GSE9613 33513758 33514315 557 0
CTCF G2GSE9613 33517182 33517482 300 0
CTCF G2GSE9613 33519442 33519692 250 0
CTCF G2GSE9613 33522275 33522671 396 0
GABP HepG2GSE8489 33504028 33504546 518 0
GABP k562GSE8489 33496934 33498069 1135 0
GABP k562GSE8489 33505546 33506390 844 0
H3ac HepG2E 33499880 33501353 1473 0
Oct1 HelaGSE14283 33511400 33511447 47 0
SRF HepG2GSE8489 33504028 33504546 518 0
SRF HepG2GSE8489 33517988 33518627 639 0
TAF HelaGSE8489 33501958 33502399 441 0
TAF k562GSE8489 33499844 33500666 822 0
TAF k562GSE8489 33505512 33506142 630 0
USF1 HepG2E 33496321 33501128 4807 0
USF2 HepG2E 33496805 33497243 438 0
hScc1 BcellGSE12603 33501585 33501889 304 0
hScc1 BcellGSE12603 33506857 33507157 300 0
hScc1 BcellGSE12603 33518093 33518750 657 0
hScc1 BcellGSE12603 33519442 33519775 333 0
hScc1 CdLSGSE12603 33501389 33502095 706 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-205 hsa-mir-205 1 20065103
hsa-miR-205 hsa-mir-205 1 20065103
hsa-miR-224 hsa-mir-224 X 20065103
hsa-miR-224 hsa-mir-224 X 20065103
hsa-miR-335 hsa-mir-335 7 20065103
hsa-miR-335 hsa-mir-335 7 20065103
hsa-miR-335* hsa-mir-335 7 20065103
hsa-miR-335* hsa-mir-335 7 20065103
hsa-miR-424 hsa-mir-424 X 20065103
hsa-miR-424 hsa-mir-424 X 20065103
hsa-miR-424* hsa-mir-424 X 20065103
hsa-miR-424* hsa-mir-424 X 20065103
hsa-miR-451 hsa-mir-451 17 20065103
hsa-miR-451 hsa-mir-451 17 20065103
hsa-miR-491-3p hsa-mir-491 9 20065103
hsa-miR-491-3p hsa-mir-491 9 20065103
hsa-miR-491-5p hsa-mir-491 9 20065103
hsa-miR-491-5p hsa-mir-491 9 20065103
hsa-miR-93 hsa-mir-93 7 20065103
hsa-miR-93 hsa-mir-93 7 20065103
hsa-miR-93* hsa-mir-93 7 20065103
hsa-miR-93* hsa-mir-93 7 20065103
No data
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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