AutismKB 2.0

Annotation Detail for PACSIN2


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Basic Information Top
Gene Symbol:PACSIN2 ( SDPII )
Gene Full Name: protein kinase C and casein kinase substrate in neurons 2
Band: 22q13.2
Quick LinksEntrez ID:11252; OMIM: 604960; Uniprot ID:PACN2_HUMAN; ENSEMBL ID: ENSG00000100266; HGNC ID: 8571
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
117N6-acetyllysine.
370Phosphothreonine.
372Phosphoserine.
373Phosphothreonine.
375Phosphoserine.
Location(AA) Modifications Resource
370Phosphothreonine.Swiss-Prot 53.0
372Phosphoserine.Swiss-Prot 53.0
373Phosphothreonine.Swiss-Prot 53.0
375Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
27Phosphothreonine(PKC)HMM predict
103Phosphoserine(PKG)HMM predict
204Phosphothreonine(PKC)HMM predict
309N-linkedHMM predict
330N-linkedHMM predict
339Phosphoserine(CK1)HMM predict
357Phosphoserine(CK1)HMM predict
361Phosphotyrosine(Syk)HMM predict
384N-linkedHMM predict
425Phosphoserine(CK1)HMM predict
425Phosphoserine(CK2)HMM predict
437SulfotyrosineHMM predict
468ArginineHMM predict
469ArginineHMM predict
469LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007229
  • Location:chr22 41595721-41741094
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41750995 41751371 376 10089
Fos K562GSE19551 41740961 41741523 562 148
KLF4 hESGSE17917 41741015 41741444 429 135
USF1 HepG2E 41743447 41744226 779 2742
hScc1 BcellGSE12603 41743447 41743799 352 2529
p63 keratinocytesGSE17611 41745403 41745980 577 4597
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41593704 41594002 298 1869
CTCF CD4SISSRdata 41593704 41594002 298 1869
CTCF HelaGSE12889 41593749 41594029 280 1833
CTCF JurkatGSE12889 41593624 41594000 376 1910
CTCF G2GSE9613 41593316 41593997 681 2065
NFkBII GM10847GSE19485 41593479 41594135 656 1915
P300 T30-glioblastomaGSE21026 41589207 41589992 785 6122
STAT1 IFNSISSRdata 41593531 41594058 527 1927
TFAP2C MCF7GSE21234 41594502 41595211 709 865
VDR GM10855-UnstimGSE22484 41593238 41594206 968 2000
hScc1 BcellGSE12603 41592108 41592454 346 3441
hScc1 BcellGSE12603 41592977 41593997 1020 2235
hScc1 BcellGSE12603 41594582 41594983 401 939
hScc1 CdLSGSE12603 41593288 41593997 709 2079
hScc1 G2GSE9613 41593316 41593997 681 2065
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41628197 41628360 163 0
CTCF CD4SISSRdata 41628197 41628360 163 0
CTCF G2GSE9613 41606739 41607148 409 0
CTCF G2GSE9613 41740539 41741195 656 0
FOXA1 MCF7GSE15244 41651813 41652329 516 0
FOXA1 MCF7GSE15244 41665834 41666603 769 0
FOXA1 MCF7GSE15244 41680965 41681860 895 0
FOXA1 MCF7GSE15244 41719664 41720260 596 0
FOXA1 MCF7GSE15244 41721139 41721694 555 0
Fos K562GSE19551 41733532 41734045 513 0
FoxA1 MCF7MACSdata 41626714 41626934 220 0
FoxA1 MCF7MACSdata 41666201 41666566 365 0
Gata2 K562GSE18868 41733457 41734129 672 0
H3K4me2 HCT116GSE10453 41671495 41671908 413 0
H3K4me2 HCT116GSE10453 41673373 41674392 1019 0
H3K4me3 colorectalcancer 41739853 41740224 371 0
H3ac HepG2E 41716052 41716318 266 0
H3ac HepG2E 41719381 41719554 173 0
H3ac HepG2E 41721419 41721694 275 0
H3ac HepG2E 41726094 41726606 512 0
H3ac HepG2E 41732801 41733138 337 0
H3ac HepG2E 41739057 41740638 1581 0
Myc K562GSE19551 41663426 41663794 368 0
Myc K562GSE19551 41685644 41686079 435 0
Myc K562GSE19551 41693994 41694212 218 0
Myc K562GSE19551 41733451 41734025 574 0
PHF8 HeLaGSE20725 41740142 41741825 1683 0
PolII HeLaGSE12783 41739985 41742143 2158 0
RARA MCF7GSE15244 41647990 41648278 288 0
RARA MCF7GSE15244 41651960 41652212 252 0
RARA MCF7GSE15244 41665762 41666521 759 0
RARA MCF7GSE15244 41673078 41673882 804 0
RARA MCF7GSE15244 41680710 41682042 1332 0
RARA MCF7GSE15244 41721382 41721694 312 0
RARA MCF7GSE15244 41737044 41737556 512 0
RARG MCF7GSE15244 41665725 41666486 761 0
RARG MCF7GSE15244 41672904 41674392 1488 0
RARG MCF7GSE15244 41680710 41682006 1296 0
RARG MCF7GSE15244 41737044 41737556 512 0
Rb GrowingGSE19898 41716202 41716355 153 0
Rb GrowingGSE19898 41720817 41720991 174 0
TAF k562GSE8489 41642699 41642973 274 0
TAF k562GSE8489 41685230 41686876 1646 0
TAF k562GSE8489 41739057 41739553 496 0
TFAP2C MCF7GSE21234 41599360 41599790 430 0
TFAP2C MCF7GSE21234 41673089 41673946 857 0
TFAP2C MCF7GSE21234 41681123 41681579 456 0
TFAP2C MCF7GSE21234 41688303 41689144 841 0
TFAP2C MCF7GSE21234 41719697 41720404 707 0
USF1 HepG2E 41656525 41657314 789 0
USF2 HepG2E 41721491 41721694 203 0
hScc1 BcellGSE12603 41606843 41607148 305 0
hScc1 BcellGSE12603 41628082 41628486 404 0
hScc1 BcellGSE12603 41630456 41630832 376 0
hScc1 BcellGSE12603 41660254 41660795 541 0
hScc1 BcellGSE12603 41677240 41677846 606 0
hScc1 BcellGSE12603 41740356 41741506 1150 0
hScc1 CdLSGSE12603 41657600 41658192 592 0
hScc1 CdLSGSE12603 41694121 41694458 337 0
hScc1 CdLSGSE12603 41740224 41741506 1282 0
p130 shRbQuiescentGSE19898 41659253 41659715 462 0
p130 shRbSenescentGSE19898 41663484 41663641 157 0
p63 keratinocytesGSE17611 41644133 41645043 910 0
p63 keratinocytesGSE17611 41664699 41665603 904 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
17557 EST chr22 41650103 41651529 1426 mRNA PACSIN2 chr22 41590274 41735649 Non-exonic Bidirectional (NOB) 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