AutismKB 2.0

Annotation Detail for KIAA1530


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Basic Information Top
Gene Symbol:KIAA1530 ( MGC117169 )
Gene Full Name: KIAA1530
Band: 4p16.3
Quick LinksEntrez ID:57654; OMIM: NA; Uniprot ID:K1530_HUMAN; ENSEMBL ID: ENSG00000163945; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
281Phosphoserine.
287Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020894
  • Location:chr4 1331103-1371731
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1328475 1329110 635 2311
CTCF G2GSE9613 1329579 1331350 1771 639
ETS1 JurkatGSE17954 1330282 1331483 1201 221
H3ac HepG2E 1329472 1329909 437 1413
Rb SenescentGSE19898 1330488 1330812 324 454
Rb SenescentGSE19898 1330822 1331043 221 171
Rb shRbSenescenceGSE19898 1330572 1330917 345 359
TFAP2C MCF7GSE21234 1329416 1329826 410 1483
hScc1 BcellGSE12603 1329909 1331635 1726 332
hScc1 G2GSE9613 1329642 1331278 1636 644
p130 QuiescentGSE19898 1330764 1331015 251 214
p130 SenescentGSE19898 1330708 1331003 295 248
p130 shRbSenescentGSE19898 1330605 1331039 434 282
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1374570 1374723 153 2915
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 1348960 1350280 1320 0
CTCF CD4GSE12889 1335648 1335917 269 0
CTCF CD4SISSRdata 1335648 1335917 269 0
CTCF HelaGSE12889 1335744 1335975 231 0
CTCF JurkatGSE12889 1335586 1336016 430 0
CTCF G2GSE9613 1332155 1332924 769 0
CTCF G2GSE9613 1333683 1334140 457 0
CTCF G2GSE9613 1335493 1336432 939 0
CTCF G2GSE9613 1336739 1342326 5587 0
CTCF G2GSE9613 1343550 1344326 776 0
CTCF G2GSE9613 1344632 1345355 723 0
CTCF G2GSE9613 1346285 1346908 623 0
CTCF G2GSE9613 1347735 1349957 2222 0
CTCF G2GSE9613 1350317 1350997 680 0
CTCF G2GSE9613 1351522 1351987 465 0
CTCF G2GSE9613 1352284 1352951 667 0
CTCF G2GSE9613 1354152 1354538 386 0
CTCF G2GSE9613 1357668 1359504 1836 0
CTCF G2GSE9613 1359796 1361763 1967 0
CTCF G2GSE9613 1362364 1365442 3078 0
CTCF G2GSE9613 1366580 1367269 689 0
CTCF G2GSE9613 1367832 1368410 578 0
CTCF G2GSE9613 1368979 1369267 288 0
CTCF G2GSE9613 1369610 1370180 570 0
H3K4me3 colorectalcancer 1331760 1332118 358 0
H3ac HepG2E 1331566 1333886 2320 0
PHF8 Hs68minusFBSGSE20725 1330744 1331762 1018 0
Rb SenescentGSE19898 1331145 1331571 426 0
TFAP2C MCF7GSE21234 1335585 1335989 404 0
TFAP2C MCF7GSE21234 1349361 1350014 653 0
TFAP2C MCF7GSE21234 1369450 1370154 704 0
hScc1 BcellGSE12603 1335493 1336089 596 0
hScc1 BcellGSE12603 1337043 1337857 814 0
hScc1 BcellGSE12603 1339830 1340540 710 0
hScc1 BcellGSE12603 1347803 1348176 373 0
hScc1 BcellGSE12603 1349482 1349957 475 0
hScc1 BcellGSE12603 1352559 1352951 392 0
hScc1 BcellGSE12603 1359832 1360722 890 0
hScc1 BcellGSE12603 1365178 1365442 264 0
hScc1 BcellGSE12603 1366997 1368155 1158 0
hScc1 BcellGSE12603 1369108 1369332 224 0
hScc1 CdLSGSE12603 1335493 1336160 667 0
hScc1 G2GSE9613 1335493 1336089 596 0
hScc1 G2GSE9613 1337781 1341794 4013 0
hScc1 G2GSE9613 1347696 1348211 515 0
p130 QuiescentGSE19898 1335513 1335772 259 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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