AutismKB 2.0

Annotation Detail for SPEN


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Basic Information Top
Gene Symbol:SPEN ( HIAA0929,KIAA0929,MINT,RBM15C,SHARP )
Gene Full Name: spen homolog, transcriptional regulator (Drosophila)
Band: 1p36.21-p36.13
Quick LinksEntrez ID:23013; OMIM: 613484; Uniprot ID:MINT_HUMAN; ENSEMBL ID: ENSG00000065526; HGNC ID: 17575
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
43Phosphoserine.
260Phosphoserine.
263Phosphoserine.
266Phosphothreonine.
725Phosphoserine.
727Phosphoserine.
736Phosphoserine.
740Phosphoserine.
847Phosphoserine.
1194Phosphoserine.
1222Phosphoserine.
1261Phosphoserine.
1268Phosphoserine.
1278Phosphoserine.
1283Phosphoserine.
1287Phosphoserine.
1333Phosphoserine.
1380Phosphoserine.
1382Phosphoserine.
1390Phosphoserine.
1392Phosphoserine.
1439Phosphothreonine.
1441Phosphothreonine.
1619Phosphothreonine.
1633Phosphothreonine.
1636Phosphoserine.
1797Phosphoserine.
1826Phosphothreonine.
1857Phosphoserine.
1897Phosphoserine.
1918Phosphoserine.
1947Phosphothreonine.
2101Phosphoserine.
2120Phosphoserine.
2126Phosphoserine.
2159Phosphoserine.
2366Phosphoserine.
2393Phosphothreonine.
2423Phosphothreonine.
2452Phosphoserine.
2460Phosphothreonine.
2481Phosphoserine.
2493Phosphoserine.
2685Phosphothreonine.
2938Phosphothreonine.
2950Phosphothreonine.
3433Phosphoserine.
Location(AA) Modifications Resource
725Phosphoserine.Swiss-Prot 53.0
725PhosphoserinePhospho.ELM 6.0
727Phosphoserine.Swiss-Prot 53.0
727PhosphoserinePhospho.ELM 6.0
736Phosphoserine.Swiss-Prot 53.0
736PhosphoserinePhospho.ELM 6.0
740PhosphoserinePhospho.ELM 6.0
740Phosphoserine.Swiss-Prot 53.0
1222PhosphoserinePhospho.ELM 6.0
1261PhosphoserinePhospho.ELM 6.0
1261Phosphoserine.Swiss-Prot 53.0
1268PhosphoserinePhospho.ELM 6.0
1268Phosphoserine.Swiss-Prot 53.0
1278PhosphoserinePhospho.ELM 6.0
1278Phosphoserine.Swiss-Prot 53.0
1283PhosphoserinePhospho.ELM 6.0
1283Phosphoserine.Swiss-Prot 53.0
1380Phosphoserine.Swiss-Prot 53.0
1380PhosphoserinePhospho.ELM 6.0
1382PhosphoserinePhospho.ELM 6.0
1382Phosphoserine.Swiss-Prot 53.0
1857PhosphoserinePhospho.ELM 6.0
1857Phosphoserine.Swiss-Prot 53.0
2101Phosphoserine.Swiss-Prot 53.0
2101PhosphoserinePhospho.ELM 6.0
2120Phosphoserine.Swiss-Prot 53.0
2120PhosphoserinePhospho.ELM 6.0
2393PhosphothreoninePhospho.ELM 6.0
2393Phosphothreonine.Swiss-Prot 53.0
3486PhosphoserinePhospho.ELM 6.0
3568PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
43Phosphoserine(PKA)HMM predict
78Phosphotyrosine(Syk)HMM predict
116Phosphotyrosine(INSR)HMM predict
116Phosphotyrosine(Abl)HMM predict
149Phosphotyrosine(Jak)HMM predict
165SulfotyrosineHMM predict
169Phosphotyrosine(Syk)HMM predict
169PhosphotyrosineHMM predict
169SulfotyrosineHMM predict
170Phosphotyrosine(Syk)HMM predict
170SulfotyrosineHMM predict
177Phosphothreonine(PKA)HMM predict
244Phosphoserine(CDC2)HMM predict
244Phosphoserine(ATM)HMM predict
244Phosphoserine(IKK)HMM predict
244Phosphoserine(PKB)HMM predict
248Phosphoserine(ATM)HMM predict
252N-linkedHMM predict
254Phosphoserine(CDC2)HMM predict
266O-linkedHMM predict
266O-linkedHMM predict
268O-linkedHMM predict
268Phosphoserine(CDC2)HMM predict
268Phosphoserine(CDK)HMM predict
270Phosphoserine(IKK)HMM predict
278Phosphoserine(IKK)HMM predict
280Phosphoserine(CK1)HMM predict
281Phosphoserine(ATM)HMM predict
283O-linkedHMM predict
283Phosphoserine(IKK)HMM predict
286Phosphoserine(CK1)HMM predict
290O-linkedHMM predict
292Phosphoserine(ATM)HMM predict
302Phosphoserine(ATM)HMM predict
305Phosphoserine(CDC2)HMM predict
305Phosphoserine(IKK)HMM predict
305PhosphoserineHMM predict
320Phosphoserine(IKK)HMM predict
334Phosphoserine(PKA)HMM predict
418PhosphoserineHMM predict
527N-linkedHMM predict
572Phosphothreonine(PKC)HMM predict
624SulfotyrosineHMM predict
626SulfotyrosineHMM predict
633Phosphotyrosine(Syk)HMM predict
668Phosphotyrosine(Jak)HMM predict
673Phosphotyrosine(Syk)HMM predict
674Phosphotyrosine(Syk)HMM predict
674PhosphotyrosineHMM predict
683SulfotyrosineHMM predict
727Phosphoserine(IKK)HMM predict
727PhosphoserineHMM predict
736Phosphoserine(CDC2)HMM predict
736Phosphoserine(IKK)HMM predict
736PhosphoserineHMM predict
740O-linkedHMM predict
740Phosphoserine(CDC2)HMM predict
742Phosphoserine(ATM)HMM predict
765Phosphoserine(IKK)HMM predict
768Phosphoserine(IKK)HMM predict
830Phosphoserine(MAPK)HMM predict
832O-linkedHMM predict
832Phosphoserine(CK2)HMM predict
833Phosphoserine(ATM)HMM predict
835Phosphoserine(CK1)HMM predict
835Phosphoserine(CK2)HMM predict
836Phosphoserine(CK1)HMM predict
836Phosphoserine(CK2)HMM predict
836Phosphoserine(IKK)HMM predict
847Phosphoserine(IKK)HMM predict
905N-linkedHMM predict
920Phosphoserine(ATM)HMM predict
920Phosphoserine(IKK)HMM predict
922Phosphothreonine(PKC)HMM predict
930Phosphoserine(CK1)HMM predict
1005Phosphoserine(PKG)HMM predict
1005Phosphoserine(IKK)HMM predict
1016Phosphoserine(CK1)HMM predict
1059Phosphothreonine(PKC)HMM predict
1140Phosphothreonine(CDC2)HMM predict
1140Phosphothreonine(MAPK)HMM predict
1152Phosphoserine(CK1)HMM predict
1194Phosphoserine(CDC2)HMM predict
1194Phosphoserine(CDK)HMM predict
1202Phosphotyrosine(Syk)HMM predict
1225Phosphoserine(CDK)HMM predict
1245Phosphotyrosine(EGFR)HMM predict
1252Phosphoserine(CAMK2)HMM predict
1261Phosphoserine(CDC2)HMM predict
1287Phosphoserine(CDC2)HMM predict
1299N-linkedHMM predict
1314Phosphoserine(CDK)HMM predict
1369Phosphoserine(PKA)HMM predict
1382Phosphoserine(CK1)HMM predict
1423Phosphoserine(CK1)HMM predict
1423Phosphoserine(CK2)HMM predict
1423PhosphoserineHMM predict
1441Phosphothreonine(MAPK)HMM predict
1453Phosphoserine(PKC)HMM predict
1453Phosphoserine(PKG)HMM predict
1453Phosphoserine(CK1)HMM predict
1453Phosphoserine(IKK)HMM predict
1453Phosphoserine(PKB)HMM predict
1455Phosphoserine(CK1)HMM predict
1456Phosphoserine(CK2)HMM predict
1461N-linkedHMM predict
1504Phosphoserine(CAMK2)HMM predict
1570N-linkedHMM predict
1575Phosphoserine(IKK)HMM predict
1619Phosphothreonine(CDC2)HMM predict
1619Phosphothreonine(MAPK)HMM predict
1619Phosphothreonine(CDK)HMM predict
1633Phosphothreonine(MAPK)HMM predict
1636O-linkedHMM predict
1641O-linkedHMM predict
1643O-linkedHMM predict
1646O-linkedHMM predict
1687Phosphoserine(IKK)HMM predict
1723Phosphoserine(CK1)HMM predict
1724Phosphoserine(ATM)HMM predict
1730Phosphotyrosine(Syk)HMM predict
1737O-linkedHMM predict
1737Phosphothreonine(MAPK)HMM predict
1743Phosphoserine(ATM)HMM predict
1747Phosphoserine(IKK)HMM predict
1797Phosphoserine(ATM)HMM predict
1819N-linkedHMM predict
1821Phosphoserine(CDK)HMM predict
1824Phosphoserine(PKG)HMM predict
1826Phosphothreonine(CDK)HMM predict
1841Phosphothreonine(PKC)HMM predict
1857Phosphoserine(CDC2)HMM predict
1880Phosphoserine(CAMK2)HMM predict
1893Phosphoserine(CK1)HMM predict
1916N-linkedHMM predict
1918Phosphoserine(CDC2)HMM predict
1930Phosphothreonine(PKC)HMM predict
1946Phosphothreonine(PKC)HMM predict
1947Phosphothreonine(CDC2)HMM predict
1947Phosphothreonine(MAPK)HMM predict
1947Phosphothreonine(CDK)HMM predict
1956Phosphothreonine(PKC)HMM predict
1974Phosphothreonine(PKC)HMM predict
1986Phosphoserine(ATM)HMM predict
2014O-linkedHMM predict
2101Phosphoserine(CDK)HMM predict
2120Phosphoserine(CDC2)HMM predict
2124PhosphoserineHMM predict
2126Phosphoserine(CDC2)HMM predict
2126Phosphoserine(CDK)HMM predict
2154O-linkedHMM predict
2211Phosphoserine(CAMK2)HMM predict
2282O-linkedHMM predict
2292O-linkedHMM predict
2304N-linkedHMM predict
2311Phosphoserine(CK1)HMM predict
2318Phosphoserine(PKG)HMM predict
2335Phosphothreonine(PKC)HMM predict
2344Phosphothreonine(PKC)HMM predict
2366Phosphoserine(IKK)HMM predict
2392Phosphoserine(IKK)HMM predict
2393O-linkedHMM predict
2393Phosphothreonine(MAPK)HMM predict
2393Phosphothreonine(CDK)HMM predict
2400Phosphoserine(CK1)HMM predict
2410N-linkedHMM predict
2412Phosphoserine(ATM)HMM predict
2421Phosphothreonine(MAPK)HMM predict
2423Phosphothreonine(PKC)HMM predict
2460Phosphothreonine(CDC2)HMM predict
2460Phosphothreonine(MAPK)HMM predict
2460Phosphothreonine(CDK)HMM predict
2466Phosphoserine(IKK)HMM predict
2471O-linkedHMM predict
2493Phosphoserine(ATM)HMM predict
2512Phosphoserine(PKG)HMM predict
2512Phosphoserine(IKK)HMM predict
2513O-linkedHMM predict
2513Phosphothreonine(MAPK)HMM predict
2515Phosphoserine(CDC2)HMM predict
2515Phosphoserine(MAPK)HMM predict
2515Phosphoserine(CDK)HMM predict
2533Phosphothreonine(PKC)HMM predict
2547O-linkedHMM predict
2548O-linkedHMM predict
2550O-linkedHMM predict
2551O-linkedHMM predict
2552O-linkedHMM predict
2555O-linkedHMM predict
2556O-linkedHMM predict
2591O-linkedHMM predict
2659N-linkedHMM predict
2678Phosphothreonine(PKC)HMM predict
2681O-linkedHMM predict
2712N-linkedHMM predict
2730O-linkedHMM predict
2733N-linkedHMM predict
2735O-linkedHMM predict
2737O-linkedHMM predict
2737O-linkedHMM predict
2740O-linkedHMM predict
2742O-linkedHMM predict
2747O-linkedHMM predict
2750O-linkedHMM predict
2750O-linkedHMM predict
2754O-linkedHMM predict
2761O-linkedHMM predict
2835Phosphoserine(PKG)HMM predict
2854Phosphoserine(ATM)HMM predict
2854Phosphoserine(IKK)HMM predict
2864Phosphoserine(ATM)HMM predict
2864Phosphoserine(IKK)HMM predict
2868O-linkedHMM predict
2884O-linkedHMM predict
2896Phosphoserine(CDC2)HMM predict
2900O-linkedHMM predict
2908Phosphoserine(CK1)HMM predict
2918O-linkedHMM predict
2924O-linkedHMM predict
3003O-linkedHMM predict
3025O-linkedHMM predict
3025Phosphoserine(MAPK)HMM predict
3034O-linkedHMM predict
3040O-linkedHMM predict
3043O-linkedHMM predict
3044Phosphoserine(IKK)HMM predict
3045O-linkedHMM predict
3047Phosphoserine(IKK)HMM predict
3048O-linkedHMM predict
3053N-linkedHMM predict
3083Phosphoserine(IKK)HMM predict
3094Phosphoserine(ATM)HMM predict
3119Phosphoserine(MAPK)HMM predict
3138Phosphoserine(IKK)HMM predict
3139Phosphothreonine(CDK)HMM predict
3223O-linkedHMM predict
3236Phosphothreonine(MAPK)HMM predict
3244O-linkedHMM predict
3244O-linkedHMM predict
3244Phosphothreonine(MAPK)HMM predict
3246O-linkedHMM predict
3246O-linkedHMM predict
3246O-linkedHMM predict
3246Phosphothreonine(MAPK)HMM predict
3271Phosphothreonine(PKC)HMM predict
3284Phosphothreonine(MAPK)HMM predict
3329O-linkedHMM predict
3335O-linkedHMM predict
3359O-linkedHMM predict
3382O-linkedHMM predict
3383O-linkedHMM predict
3389Phosphoserine(ATM)HMM predict
3429O-linkedHMM predict
3429O-linkedHMM predict
3430O-linkedHMM predict
3430Phosphoserine(IKK)HMM predict
3433Phosphoserine(CDC2)HMM predict
3461O-linkedHMM predict
3462O-linkedHMM predict
3463O-linkedHMM predict
3463O-linkedHMM predict
3466O-linkedHMM predict
3467Phosphothreonine(MAPK)HMM predict
3467Phosphothreonine(CDK)HMM predict
3517N-linkedHMM predict
3568Phosphothreonine(PKA)HMM predict
3568Phosphothreonine(PKC)HMM predict
3590Phosphoserine(CK1)HMM predict
3590Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015001
  • Location:chr1 16046945-16139536
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 16034523 16034787 264 12291
FOXA1 MCF7GSE15244 16030820 16031268 448 15902
H3ac HepG2E 16027289 16027780 491 19411
H3ac HepG2E 16029158 16029795 637 17469
H3ac HepG2E 16030820 16031268 448 15902
H3ac HepG2E 16032811 16033665 854 13708
H3ac HepG2E 16034407 16034754 347 12365
H3ac HepG2E 16044047 16044579 532 2633
H3ac HepG2E 16046226 16046492 266 587
HIF1 HypoHepG2 16034682 16035439 757 11885
HIF1 NormHepG2 16034718 16035539 821 11817
Myc hESGSE17917 16036593 16036945 352 10177
PHF8 Hs68minusFBSGSE20725 16033332 16034317 985 13121
PHF8 Hs68minusFBSGSE20725 16034721 16035551 830 11810
RARA MCF7GSE15244 16030820 16031268 448 15902
RARG MCF7GSE15244 16030820 16031268 448 15902
Rb GrowingGSE19898 16034855 16035281 426 11878
Rb QuiescentGSE19898 16046414 16046756 342 361
Rb SenescentGSE19898 16034687 16035348 661 11928
Rb SenescentGSE19898 16046364 16046846 482 341
Rb shRbQuiescentGSE19898 16046383 16046752 369 378
TAF HelaGSE8489 16032811 16033432 621 13824
TAF k562GSE8489 16030820 16031268 448 15902
TAF k562GSE8489 16032811 16033810 999 13635
TAF k562GSE8489 16043445 16043593 148 3427
TFAP2C MCF7GSE21234 16028718 16029294 576 17940
hScc1 BcellGSE12603 16033702 16034682 980 12754
p130 SenescentGSE19898 16046287 16046479 192 563
p130 shRbSenescentGSE19898 16046246 16046779 533 433
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 16117939 16119159 1220 0
CTCF G2GSE9613 16046611 16047880 1269 0
ER Fulvestrant-MCF7GSE14664 16093133 16093185 52 0
ER Fulvestrant-MCF7GSE14664 16109077 16109148 71 0
Fos K562GSE19551 16096856 16097314 458 0
H3K4me3 colorectalcancer 16047256 16048471 1215 0
H3ac HepG2E 16047853 16049142 1289 0
H3ac HepG2E 16049506 16050082 576 0
Jun K562GSE19551 16096869 16097349 480 0
Myc K562GSE19551 16085200 16085797 597 0
NFkBII GM12878GSE19485 16081381 16082797 1416 0
Oct1 HelaGSE14283 16062626 16062686 60 0
Oct1 HelaGSE14283 16091280 16091333 53 0
Oct1 HelaGSE14283 16104082 16104119 37 0
Oct1 HelaGSE14283 16125843 16125879 36 0
Oct1 HelaGSE14283 16132709 16132806 97 0
P300 T30-glioblastomaGSE21026 16101813 16102490 677 0
P300 T30-glioblastomaGSE21026 16118259 16119084 825 0
PHF8 HeLaGSE20725 16046213 16047739 1526 0
TAF k562GSE8489 16047853 16050336 2483 0
TAF k562GSE8489 16084341 16085383 1042 0
TFAP2C MCF7GSE21234 16138193 16138909 716 0
hScc1 BcellGSE12603 16046985 16047817 832 0
hScc1 BcellGSE12603 16048942 16049142 200 0
hScc1 BcellGSE12603 16132311 16132839 528 0
hScc1 BcellGSE12603 16134519 16135145 626 0
hScc1 BcellGSE12603 16136951 16137170 219 0
hScc1 CdLSGSE12603 16046811 16048551 1740 0
p130 SenescentGSE19898 16118425 16118777 352 0
p63 keratinocytesGSE17611 16122215 16122956 741 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-29a hsa-mir-29a 7 21081840
hsa-miR-29a* hsa-mir-29a 7 21081840
hsa-miR-29b hsa-mir-29b-1 7 21081840
hsa-miR-29b hsa-mir-29b-2 1 21081840
hsa-miR-29b-1* hsa-mir-29b-1 7 21081840
hsa-miR-29b-2* hsa-mir-29b-2 1 21081840
hsa-miR-29c hsa-mir-29c 1 21081840
hsa-miR-29c* hsa-mir-29c 1 21081840
No data
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
254 mRNA SPEN chr1 15919664 16012256 40 mRNA chr1 15906279 15919948Sense/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


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