AutismKB 2.0

Annotation Detail for DNAH5


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Basic Information Top
Gene Symbol:DNAH5 ( CILD3,DNAHC5,FLJ46759,HL1,KIAA1603,KTGNR,PCD )
Gene Full Name: dynein, axonemal, heavy chain 5
Band: 5p15.2
Quick LinksEntrez ID:1767; OMIM: 603335; Uniprot ID:DYH5_HUMAN; ENSEMBL ID: ENSG00000039139; HGNC ID: 2950
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 body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor13 / 125191103
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 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney8 / 21177737
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P388786
  • 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
Amygdala3.13 ± 1
Basal Forebrain2.47 ± 0.69
Basal Part of Pons2.67 ± 0.75
Cerebellar Cortex2.75 ± 0.7
Cerebellar Nuclei3.06 ± 0.85
Claustrum2.98 ± 0.86
Epithalamus6.18 ± 1.85
Frontal Lobe3.72 ± 0.85
Globus Pallidus2.72 ± 0.84
Hypothalamus3.62 ± 0.61
Insula4.27 ± 0.68
Limbic Lobe3.54 ± 0.85
Mesencephalon3.63 ± 1.04
Myelencephalon3.4 ± 1.08
Occipital Lobe2.25 ± 0.87
Parietal Lobe3.13 ± 0.79
Pontine Tegmentum3.4 ± 0.73
Striatum3.03 ± 1.93
Subthalamus2.96 ± 0.69
Temporal Lobe3.72 ± 0.8
Thalamus3.61 ± 0.73
White Matter1.58 ± 0.7
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dnahc5CBCerebellum1.25
2.24
Dnahc5CTXCerebral cortex2.14
1.6
Dnahc5HIPHippocampal region2.98
3.08
Dnahc5HPFHippocampal formation5.24
4.59
Dnahc5HYHypothalamus2.29
2.92
Dnahc5LSXLateral septal complex1.37
1.43
Dnahc5MBMidbrain1.78
2.49
Dnahc5MYMedulla0.36
0.48
Dnahc5OLFOlfactory bulb1.32
0.99
Dnahc5PPons0.52
0.7
Dnahc5PALPallidum0.46
0.52
Dnahc5RHPRetrohippocampal region9.72
7.22
Dnahc5sAMYStriatum-like amygdalar nuclei0.76
0.78
Dnahc5STRStriatum0.34
0.34
Dnahc5STRdStriatum dorsal region0.18
0.19
Dnahc5STRvStriatum ventral region0.15
0.11
Dnahc5THThalamus0.54
0.65
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