AutismKB 2.0

Annotation Detail for HVCN1


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Basic Information Top
Gene Symbol:HVCN1 ( HV1,MGC15619,VSOP )
Gene Full Name: hydrogen voltage-gated channel 1
Band: 12q24.11
Quick LinksEntrez ID:84329; OMIM: 611227; Uniprot ID:HVCN1_HUMAN; ENSEMBL ID: ENSG00000122986; HGNC ID: 28240
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 body2 / 7076128
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult27 / 193912113
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor12 / 103127116
lymphoma8 / 71755111
non-neoplasia0 / 972500 
normal90 / 336030726
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
blood7 / 12347856
bone0 / 716550 
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx2 / 2414582
liver1 / 2077434
lung13 / 33697438
lymph4 / 4427090
lymph node12 / 91610130
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen6 / 53952111
stomach0 / 966190 
testis22 / 33044266
thymus0 / 811310 
thyroid0 / 474730 
tonsil7 / 16999411
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15098_PI416261804
  • 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
Amygdala4.25 ± 0.55
Basal Forebrain4.96 ± 0.34
Basal Part of Pons3.98 ± 0.39
Cerebellar Cortex4.46 ± 0.56
Cerebellar Nuclei5.21 ± 0.79
Claustrum3.97 ± 0.77
Epithalamus5.89 ± 0.53
Frontal Lobe4.6 ± 0.63
Globus Pallidus7.37 ± 0.59
Hypothalamus5.23 ± 0.64
Insula4.42 ± 0.73
Limbic Lobe4.3 ± 0.82
Mesencephalon5.34 ± 0.63
Myelencephalon4.8 ± 0.73
Occipital Lobe4.89 ± 1.11
Parietal Lobe4.67 ± 0.72
Pontine Tegmentum4.73 ± 0.51
Striatum5.38 ± 0.85
Subthalamus5.31 ± 0.5
Temporal Lobe4.28 ± 0.58
Thalamus5.15 ± 0.47
White Matter5.88 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hvcn1CBCerebellum2.49
2.76
Hvcn1CTXCerebral cortex2.13
1.69
Hvcn1HIPHippocampal region1.46
1.19
Hvcn1HPFHippocampal formation1.29
1
Hvcn1HYHypothalamus2.05
1.12
Hvcn1LSXLateral septal complex1.68
1.06
Hvcn1MBMidbrain3
2.18
Hvcn1MYMedulla3.59
3.07
Hvcn1OLFOlfactory bulb2.33
1.57
Hvcn1PPons3.32
2.57
Hvcn1PALPallidum0.8
0.69
Hvcn1RHPRetrohippocampal region1.01
0.73
Hvcn1sAMYStriatum-like amygdalar nuclei0.44
0.25
Hvcn1STRStriatum1.19
0.82
Hvcn1STRdStriatum dorsal region1.16
0.85
Hvcn1STRvStriatum ventral region1.51
0.9
Hvcn1THThalamus3.06
2.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003309 17 27 43 HFTVVGDDYHAWNINYK 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