AutismKB 2.0

Annotation Detail for HHAT


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Basic Information Top
Gene Symbol:HHAT ( FLJ10724,FLJ34867,MART2,SKI1,Skn )
Gene Full Name: hedgehog acyltransferase
Band: 1q32.2
Quick LinksEntrez ID:55733; OMIM: 605743; Uniprot ID:HHAT_HUMAN; ENSEMBL ID: ENSG00000054392; HGNC ID: 18270
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
60C-linkedHMM predict
132Phosphoserine(IKK)HMM predict
167Phosphotyrosine(Jak)HMM predict
420Phosphoserine(CDC2)HMM predict
433Phosphoserine(IKK)HMM predict
479TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018194
  • Location:chr1 208568919-208916260
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 208551084 208551437 353 17659
CTCF CD4SISSRdata 208551084 208551437 353 17659
CTCF G2GSE9613 208550990 208551504 514 17673
CTCF G2GSE9613 208568560 208568867 307 206
Oct4 hESGSE17917 208551078 208551341 263 17710
TFAP2C MCF7GSE21234 208561568 208561861 293 7205
hScc1 BcellGSE12603 208550885 208551504 619 17725
hScc1 CdLSGSE12603 208550812 208551504 692 17762
hScc1 G2GSE9613 208550812 208551504 692 17762
p63 keratinocytesGSE17611 208560982 208562099 1117 7379
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 208837616 208838852 1236 0
CTCF CD4GSE12889 208614342 208614605 263 0
CTCF CD4GSE12889 208640533 208640903 370 0
CTCF CD4GSE12889 208647208 208647621 413 0
CTCF CD4GSE12889 208688277 208688548 271 0
CTCF CD4GSE12889 208824394 208824625 231 0
CTCF CD4SISSRdata 208614342 208614605 263 0
CTCF CD4SISSRdata 208640533 208640903 370 0
CTCF CD4SISSRdata 208647208 208647621 413 0
CTCF CD4SISSRdata 208688277 208688548 271 0
CTCF CD4SISSRdata 208824394 208824625 231 0
CTCF HelaGSE12889 208640631 208640870 239 0
CTCF JurkatGSE12889 208640609 208640874 265 0
CTCF G2GSE9613 208569226 208569456 230 0
CTCF G2GSE9613 208600918 208601234 316 0
CTCF G2GSE9613 208614286 208614611 325 0
CTCF G2GSE9613 208640340 208641066 726 0
CTCF G2GSE9613 208647115 208647552 437 0
CTCF G2GSE9613 208688364 208688556 192 0
CTCF G2GSE9613 208824406 208824836 430 0
CTCF G2GSE9613 208893846 208894270 424 0
ER MCF7GSE19013 208606782 208607602 820 0
FOXA1 MCF7GSE15244 208717039 208717790 751 0
H3K4me3 colorectalcancer 208568980 208569675 695 0
H3ac HepG2E 208886196 208886502 306 0
Myc K562GSE19551 208614289 208614674 385 0
NFkBII GM12892GSE19485 208639398 208640851 1453 0
NRSF JurkatSISSRdata 208896805 208896969 164 0
NRSF mAbJurkat 208679599 208679780 181 0
NRSF mAbJurkat 208680579 208681000 421 0
Nanog ESGSE20650 208598645 208599253 608 0
Nanog ESGSE20650 208674296 208674511 215 0
Nanog hESGSE18292 208569486 208569666 180 0
Nanog hESGSE18292 208598503 208599247 744 0
Nanog hESGSE18292 208613660 208614482 822 0
Nanog hESGSE18292 208674112 208674468 356 0
Nanog hESGSE18292 208688395 208688574 179 0
Nanog hESGSE18292 208782015 208782227 212 0
Oct4 ESGSE20650 208893845 208894033 188 0
Oct4 hESGSE17917 208613850 208614295 445 0
Oct4 hESGSE17917 208824301 208824776 475 0
P300 T0-glioblastomaGSE21026 208613437 208614719 1282 0
P300 T30-glioblastomaGSE21026 208613298 208614682 1384 0
Pol2 GM12878GSE19551 208613385 208614570 1185 0
PolII HeLaGSE12783 208612014 208614738 2724 0
RARA MCF7GSE15244 208613509 208614402 893 0
RARA MCF7GSE15244 208716913 208717790 877 0
Rb QuiescentGSE19898 208569129 208569363 234 0
Rb QuiescentGSE19898 208647251 208647503 252 0
Rb SenescentGSE19898 208569046 208569367 321 0
Rb SenescentGSE19898 208647261 208647486 225 0
STAT1 HeLaGSE12783 208717144 208718084 940 0
Sox2 hESGSE18292 208613772 208614453 681 0
TAF HelaGSE8489 208714506 208714764 258 0
TFAP2C MCF7GSE21234 208717204 208717822 618 0
TFAP2C MCF7GSE21234 208824285 208824719 434 0
hScc1 BcellGSE12603 208600918 208601161 243 0
hScc1 BcellGSE12603 208640388 208641003 615 0
hScc1 BcellGSE12603 208647115 208647480 365 0
hScc1 BcellGSE12603 208824283 208825015 732 0
hScc1 BcellGSE12603 208873182 208873682 500 0
hScc1 CdLSGSE12603 208600918 208601234 316 0
hScc1 CdLSGSE12603 208640425 208641066 641 0
hScc1 CdLSGSE12603 208647035 208647888 853 0
hScc1 CdLSGSE12603 208688364 208688658 294 0
hScc1 CdLSGSE12603 208824209 208825015 806 0
hScc1 G2GSE9613 208600918 208601307 389 0
hScc1 G2GSE9613 208647064 208647888 824 0
hScc1 G2GSE9613 208688364 208688592 228 0
hScc1 G2GSE9613 208824283 208824979 696 0
p130 shRbSenescentGSE19898 208568999 208569377 378 0
p63 keratinocytesGSE17611 208604362 208605042 680 0
p63 keratinocytesGSE17611 208645001 208645717 716 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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