AutismKB 2.0

Annotation Detail for SMG6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMG6 ( C17orf31,EST1A,KIAA0732,SMG-6 )
Gene Full Name: Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Band: 17p13.3
Quick LinksEntrez ID:23293; OMIM: 610963; Uniprot ID:EST1A_HUMAN; ENSEMBL ID: ENSG00000070366; HGNC ID: 17809
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
203Phosphoserine.
479Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
11Phosphoserine(PKG)HMM predict
89N-linkedHMM predict
131Phosphoserine(CK1)HMM predict
154Phosphothreonine(PKC)HMM predict
208MethylarginineHMM predict
256Phosphothreonine(PKC)HMM predict
258Phosphoserine(PKB)HMM predict
259Phosphothreonine(PKA)HMM predict
260Phosphoserine(IKK)HMM predict
297Phosphoserine(CAMK2)HMM predict
297Phosphoserine(IKK)HMM predict
303Phosphoserine(IKK)HMM predict
303Phosphoserine(CK2)HMM predict
303Phosphoserine(CK1)HMM predict
321Phosphoserine(PKB)HMM predict
330N-linkedHMM predict
342Phosphoserine(PKG)HMM predict
349Phosphothreonine(PKC)HMM predict
424Phosphoserine(CDC2)HMM predict
424O-linkedHMM predict
451Phosphothreonine(PKC)HMM predict
508Phosphotyrosine(Syk)HMM predict
508Phosphotyrosine(Jak)HMM predict
509Phosphotyrosine(Jak)HMM predict
509Phosphotyrosine(Syk)HMM predict
513Phosphothreonine(MAPK)HMM predict
525Phosphotyrosine(Syk)HMM predict
544SulfotyrosineHMM predict
549Phosphothreonine(CDK)HMM predict
551O-linkedHMM predict
554Phosphotyrosine(Jak)HMM predict
557Phosphoserine(MAPK)HMM predict
561O-linkedHMM predict
563O-linkedHMM predict
605Phosphoserine(MAPK)HMM predict
703Phosphotyrosine(INSR)HMM predict
796O-linkedHMM predict
842Phosphothreonine(PKC)HMM predict
865O-linkedHMM predict
865Phosphoserine(ATM)HMM predict
874Phosphoserine(CK2)HMM predict
932Phosphoserine(CDC2)HMM predict
965Phosphoserine(CK1)HMM predict
999Phosphoserine(CK2)HMM predict
1072N-linkedHMM predict
1153Phosphotyrosine(INSR)HMM predict
1169Phosphoserine(ATM)HMM predict
1196Phosphoserine(CK2)HMM predict
1359S-palmitoylHMM predict
1360S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017575
  • Location:chr17 1909882-2153818
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2153430 2154215 785 4
PHF8 HeLaGSE20725 2152918 2154749 1831 15
hScc1 BcellGSE12603 2153696 2153975 279 17
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 2040034 2043798 3764 0
CBP T30-glioblastomaGSE21026 2094248 2095091 843 0
CTCF CD4GSE12889 1915171 1915316 145 0
CTCF CD4GSE12889 2020167 2020349 182 0
CTCF CD4GSE12889 2094823 2095161 338 0
CTCF CD4SISSRdata 1915171 1915316 145 0
CTCF CD4SISSRdata 2020167 2020349 182 0
CTCF CD4SISSRdata 2094823 2095161 338 0
CTCF HelaGSE12889 2094841 2095251 410 0
CTCF JurkatGSE12889 2094779 2095085 306 0
CTCF G2GSE9613 1920400 1920669 269 0
CTCF G2GSE9613 1932470 1932837 367 0
CTCF G2GSE9613 2003870 2004055 185 0
CTCF G2GSE9613 2020100 2020465 365 0
CTCF G2GSE9613 2094681 2095384 703 0
CTCF G2GSE9613 2131986 2132726 740 0
ER Breast-CancerGSE22609 2028320 2028883 563 0
FoxA1 MCF7MACSdata 1916668 1916897 229 0
FoxA1 MCF7MACSdata 1961954 1962228 274 0
GABP k562GSE8489 2147094 2148206 1112 0
Gata2 K562GSE18868 1939524 1939998 474 0
H3K4me3 colorectalcancer 2152619 2153430 811 0
H3ac HepG2E 2151140 2151579 439 0
H3ac HepG2E 2152619 2153463 844 0
KLF4 hESGSE17917 2072499 2072659 160 0
Myc K562GSE19551 2094777 2095129 352 0
NFkBII GM12878GSE19485 1919863 1921476 1613 0
NFkBII GM12878GSE19485 2072186 2074068 1882 0
NFkBII GM12892GSE19485 2072211 2073965 1754 0
Nanog hESGSE18292 2044931 2045375 444 0
Oct4 hESGSE17917 1987387 1987691 304 0
Oct4 hESGSE17917 2094876 2095101 225 0
Oct4 hESGSE21916 1987383 1987820 437 0
P300 T0-glioblastomaGSE21026 2007818 2008489 671 0
P300 T30-glioblastomaGSE21026 2007751 2008597 846 0
P300 T30-glioblastomaGSE21026 2042420 2043496 1076 0
P300 T30-glioblastomaGSE21026 2094204 2095348 1144 0
PHF8 Hs68plusFBSGSE20725 2152769 2154478 1709 0
RARA MCF7GSE15244 1933167 1935134 1967 0
RARA MCF7GSE15244 1937135 1938298 1163 0
RARA MCF7GSE15244 1939391 1939867 476 0
RARA MCF7GSE15244 1988724 1989437 713 0
RARA MCF7GSE15244 1996387 1996559 172 0
RARA MCF7GSE15244 2024307 2025351 1044 0
RARG MCF7GSE15244 1933594 1935134 1540 0
RARG MCF7GSE15244 1937180 1938195 1015 0
RARG MCF7GSE15244 2024418 2025978 1560 0
RARG MCF7GSE15244 2062624 2062957 333 0
Rb GrowingGSE19898 2072221 2072389 168 0
Rb QuiescentGSE19898 2153622 2153855 233 0
Sox2 hESGSE18292 2044998 2045278 280 0
Stat6 IL-4-hr1GSE17850 2072567 2073138 571 0
TAF k562GSE8489 2147094 2148206 1112 0
TAF k562GSE8489 2152619 2152830 211 0
TAFII hESGSE17917 2094871 2095168 297 0
TFAP2C MCF7GSE21234 1914936 1915489 553 0
TFAP2C MCF7GSE21234 1924696 1925081 385 0
TFAP2C MCF7GSE21234 1934369 1935547 1178 0
TFAP2C MCF7GSE21234 1988862 1989178 316 0
VDR GM10855-stimGSE22484 2115408 2117906 2498 0
VDR GM10861-stimGSE22484 2115520 2117739 2219 0
hScc1 BcellGSE12603 1914726 1915480 754 0
hScc1 BcellGSE12603 1918149 1918287 138 0
hScc1 BcellGSE12603 1920183 1920627 444 0
hScc1 BcellGSE12603 1933594 1934381 787 0
hScc1 BcellGSE12603 2019736 2020336 600 0
hScc1 BcellGSE12603 2065829 2066179 350 0
hScc1 BcellGSE12603 2094409 2095384 975 0
hScc1 BcellGSE12603 2109753 2109956 203 0
hScc1 BcellGSE12603 2131472 2132726 1254 0
hScc1 CdLSGSE12603 1939463 1939903 440 0
hScc1 CdLSGSE12603 2020035 2020423 388 0
hScc1 CdLSGSE12603 2081750 2082098 348 0
hScc1 CdLSGSE12603 2094409 2095384 975 0
hScc1 CdLSGSE12603 2116144 2117228 1084 0
hScc1 CdLSGSE12603 2132022 2132761 739 0
p130 QuiescentGSE19898 1935670 1935981 311 0
p130 SenescentGSE19898 2022367 2022942 575 0
p63 keratinocytesGSE17611 2057968 2058710 742 0
p63 keratinocytesGSE17611 2109009 2109741 732 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved