AutismKB 2.0

Annotation Detail for HLTF


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Basic Information Top
Gene Symbol:HLTF ( HIP116,HIP116A,HLTF1,RNF80,SMARCA3,SNF2L3,ZBU1 )
Gene Full Name: helicase-like transcription factor
Band: 3q24
Quick LinksEntrez ID:6596; OMIM: 603257; Uniprot ID:HLTF_HUMAN; ENSEMBL ID: ENSG00000071794; HGNC ID: 11099
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst7 / 62319112
fetus25 / 56401244
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor5 / 34366145
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor26 / 26384598
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor7 / 9635972
lung tumor4 / 10312738
lymphoma2 / 7175527
non-neoplasia8 / 9725082
normal165 / 336030749
ovarian tumor7 / 7668291
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone6 / 7165583
bone marrow1 / 4880120
brain64 / 110098958
cervix5 / 48171103
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye5 / 21105423
heart7 / 8962678
intestine1 / 2344724
kidney13 / 21177761
larynx0 / 241450 
liver17 / 20774381
lung10 / 33697429
lymph0 / 442700 
lymph node9 / 9161098
mammary gland4 / 15327126
mouth2 / 6705229
muscle5 / 10771546
nerve2 / 15768126
ovary7 / 10205168
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate11 / 18934558
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach0 / 966190 
testis44 / 330442133
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202983_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.6
Adipocyte39.5
AdrenalCortex42.3
Adrenalgland13.2
Amygdala168.4
Appendix14.6
AtrioventricularNode13.75
BDCA4+_DentriticCells200.25
Bonemarrow11
BronchialEpithelialCells11.65
CD105+_Endothelial832.75
CD14+_Monocytes10.75
CD19+_BCells(neg._sel.)73.75
CD33+_Myeloid16.6
CD34+833
CD4+_Tcells70.8
CD56+_NKCells152.65
CD71+_EarlyErythroid411.85
CD8+_Tcells140.3
CardiacMyocytes24.1
Caudatenucleus81.4
Cerebellum33.65
CerebellumPeduncles34.1
CiliaryGanglion14
CingulateCortex74.75
Colorectaladenocarcinoma10.25
DorsalRootGanglion12.15
FetalThyroid63.6
Fetalbrain210.15
Fetalliver149.6
Fetallung55.65
GlobusPallidus40.8
Heart17.25
Hypothalamus219.1
Kidney10.05
Leukemia_chronicMyelogenousK-562134.55
Leukemia_promyelocytic-HL-60656.25
Leukemialymphoblastic(MOLT-4)275.55
Liver15.95
Lung10.7
Lymphnode27.2
Lymphoma_burkitts(Daudi)155
Lymphoma_burkitts(Raji)465.95
MedullaOblongata70.9
OccipitalLobe130
OlfactoryBulb29.95
Ovary7.7
Pancreas11.35
PancreaticIslet64.7
ParietalLobe74.75
Pituitary235.05
Placenta9.85
Pons36.65
PrefrontalCortex185.7
Prostate22.65
Salivarygland49.7
SkeletalMuscle24.95
Skin10.9
SmoothMuscle62.95
Spinalcord155.95
SubthalamicNucleus37
SuperiorCervicalGanglion22.4
TemporalLobe16.3
Testis40.4
TestisGermCell664.7
TestisIntersitial260.5
TestisLeydigCell179.3
TestisSeminiferousTubule261.55
Thalamus113.5
Thymus13.75
Thyroid131.9
Tongue15.25
Tonsil15.8
Trachea18.65
TrigeminalGanglion19.3
Uterus98.85
UterusCorpus12.3
WholeBlood16.85
Wholebrain30.8
colon16
pineal_day623.34
pineal_night617.42
retina100.15
small_intestine12.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P248251
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.56 ± 0.13
Basal Forebrain9.52 ± 0.14
Basal Part of Pons9.69 ± 0.26
Cerebellar Cortex9.92 ± 0.18
Cerebellar Nuclei9.7 ± 0.18
Claustrum9.9 ± 0.27
Epithalamus9.9 ± 0.12
Frontal Lobe9.7 ± 0.27
Globus Pallidus9.72 ± 0.15
Hypothalamus9.76 ± 0.27
Insula9.71 ± 0.16
Limbic Lobe9.63 ± 0.36
Mesencephalon9.71 ± 0.24
Myelencephalon9.65 ± 0.26
Occipital Lobe9.66 ± 0.22
Parietal Lobe9.71 ± 0.24
Pontine Tegmentum9.71 ± 0.27
Striatum9.57 ± 0.24
Subthalamus9.81 ± 0.12
Temporal Lobe9.61 ± 0.23
Thalamus9.61 ± 0.32
White Matter10.25 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smarca3CBCerebellum0
0
Smarca3CTXCerebral cortex0
0
Smarca3HIPHippocampal region0
0
Smarca3HPFHippocampal formation0
0
Smarca3HYHypothalamus0
0
Smarca3LSXLateral septal complex0
0
Smarca3MBMidbrain0
0
Smarca3MYMedulla0
0
Smarca3OLFOlfactory bulb0
0
Smarca3PPons0
0
Smarca3PALPallidum0
0
Smarca3RHPRetrohippocampal region0
0
Smarca3sAMYStriatum-like amygdalar nuclei0
0
Smarca3STRStriatum0
0
Smarca3STRdStriatum dorsal region0
0
Smarca3STRvStriatum ventral region0
0
Smarca3THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HLTF_HUMAN_282 19 282 300 DRPENVHGGILADDMGLGK PRIDE
PAp00501738 19 282 300 DRPENVHGGILADDMGLGK Peptide Atlas

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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