AutismKB 2.0

Annotation Detail for HELQ


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Basic Information Top
Gene Symbol:HELQ ( HEL308,MGC20604 )
Gene Full Name: helicase, POLQ-like
Band: 4q21.23
Quick LinksEntrez ID:113510; OMIM: 606769; Uniprot ID:HELQ_HUMAN; ENSEMBL ID: ENSG00000163312; HGNC ID: 18536
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
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal65 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain10 / 11009899
cervix3 / 4817162
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node5 / 9161054
mammary gland1 / 1532716
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis6 / 33044218
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus15 / 23287864
vascular6 / 51780115
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P273635
  • 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
Amygdala4.27 ± 0.46
Basal Forebrain4.15 ± 0.51
Basal Part of Pons4.41 ± 0.4
Cerebellar Cortex4.45 ± 0.31
Cerebellar Nuclei4.31 ± 0.44
Claustrum3.93 ± 0.65
Epithalamus4.47 ± 0.32
Frontal Lobe4.12 ± 0.45
Globus Pallidus4.15 ± 0.54
Hypothalamus4.31 ± 0.54
Insula4.28 ± 0.34
Limbic Lobe4.08 ± 0.48
Mesencephalon4.12 ± 0.47
Myelencephalon4.1 ± 0.46
Occipital Lobe4.47 ± 0.43
Parietal Lobe4.18 ± 0.51
Pontine Tegmentum4.2 ± 0.49
Striatum3.98 ± 0.41
Subthalamus4.19 ± 0.48
Temporal Lobe4.1 ± 0.45
Thalamus4.11 ± 0.51
White Matter4.62 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hel308CBCerebellum2.31
2.63
Hel308CTXCerebral cortex2.45
1.64
Hel308HIPHippocampal region2.88
2.48
Hel308HPFHippocampal formation2.18
1.78
Hel308HYHypothalamus0.67
0.67
Hel308LSXLateral septal complex0.07
0.03
Hel308MBMidbrain1.59
1.53
Hel308MYMedulla4.77
4.94
Hel308OLFOlfactory bulb4.41
2.74
Hel308PPons3.96
3.78
Hel308PALPallidum0.69
0.48
Hel308RHPRetrohippocampal region0.86
0.67
Hel308sAMYStriatum-like amygdalar nuclei0.13
0.2
Hel308STRStriatum0.69
0.68
Hel308STRdStriatum dorsal region0.8
0.78
Hel308STRvStriatum ventral region0.96
0.92
Hel308THThalamus2.98
2.11
Peptide 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