AutismKB 2.0

Annotation Detail for PACSIN1


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Basic Information Top
Gene Symbol:PACSIN1 ( KIAA1379,SDPI )
Gene Full Name: protein kinase C and casein kinase substrate in neurons 1
Band: 6p21.3
Quick LinksEntrez ID:29993; OMIM: 606512; Uniprot ID:PACN1_HUMAN; ENSEMBL ID: ENSG00000124507; HGNC ID: 8570
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
394Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
28Phosphothreonine(PKC)HMM predict
77Phosphotyrosine(INSR)HMM predict
89Phosphothreonine(PKC)HMM predict
121Phosphotyrosine(Jak)HMM predict
182Phosphoserine(CK2)HMM predict
184Phosphothreonine(MAPK)HMM predict
209Phosphotyrosine(Jak)HMM predict
209Phosphotyrosine(Syk)HMM predict
261N-linkedHMM predict
264Phosphotyrosine(EGFR)HMM predict
291Phosphoserine(IKK)HMM predict
330N-linkedHMM predict
365Phosphoserine(ATM)HMM predict
396SulfotyrosineHMM predict
427ArginineHMM predict
428LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020804
  • Location:chr6 34541882-34610975
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 34535736 34536039 303 5995
CTCF CD4SISSRdata 34535736 34536039 303 5995
CTCF HelaGSE12889 34535716 34535915 199 6067
CTCF G2GSE9613 34523943 34524397 454 17713
CTCF G2GSE9613 34530666 34531055 389 11022
CTCF G2GSE9613 34532735 34532955 220 9038
CTCF G2GSE9613 34535723 34535920 197 6061
CTCF G2GSE9613 34541008 34542213 1205 272
Oct1 HelaGSE14283 34531627 34531658 31 10240
hScc1 BcellGSE12603 34524065 34524397 332 17652
hScc1 BcellGSE12603 34535723 34535920 197 6061
hScc1 BcellGSE12603 34541195 34542061 866 255
hScc1 CdLSGSE12603 34535723 34535920 197 6061
hScc1 G2GSE9613 34535723 34535920 197 6061
hScc1 G2GSE9613 34541042 34542141 1099 291
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 34611519 34611782 263 675
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 34550690 34551438 748 0
CTCF CD4GSE12889 34602863 34603237 374 0
CTCF CD4SISSRdata 34602863 34603237 374 0
CTCF G2GSE9613 34552264 34552712 448 0
CTCF G2GSE9613 34561345 34561681 336 0
CTCF G2GSE9613 34587605 34587924 319 0
CTCF G2GSE9613 34590809 34591625 816 0
CTCF G2GSE9613 34593712 34594188 476 0
CTCF G2GSE9613 34595941 34596575 634 0
CTCF G2GSE9613 34596908 34597438 530 0
CTCF G2GSE9613 34601304 34601658 354 0
CTCF G2GSE9613 34601995 34602650 655 0
CTCF G2GSE9613 34602887 34603411 524 0
CTCF G2GSE9613 34604984 34606183 1199 0
ER E2-MCF7GSE14664 34598398 34598430 32 0
Myc K562GSE19551 34566852 34567234 382 0
Nanog hESGSE18292 34603478 34603743 265 0
Oct1 HelaGSE14283 34598398 34598435 37 0
Rb SenescentGSE19898 34602880 34603408 528 0
SRF HepG2GSE8489 34586001 34586443 442 0
Sox2 hESGSE18292 34603473 34603744 271 0
hScc1 BcellGSE12603 34591423 34591793 370 0
hScc1 BcellGSE12603 34592502 34593412 910 0
hScc1 BcellGSE12603 34602984 34603411 427 0
hScc1 BcellGSE12603 34605929 34606080 151 0
hScc1 BcellGSE12603 34610483 34610818 335 0
hScc1 CdLSGSE12603 34602747 34603380 633 0
hScc1 G2GSE9613 34602887 34603411 524 0
hScc1 G2GSE9613 34605377 34606154 777 0
p130 QuiescentGSE19898 34602645 34602871 226 0
p130 QuiescentGSE19898 34603130 34603354 224 0
p130 shRbSenescentGSE19898 34603042 34603338 296 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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