AutismKB 2.0

Annotation Detail for DYNC2H1


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Basic Information Top
Gene Symbol:DYNC2H1 ( ATD3,DHC1b,DHC2,DNCH2,DYH1B,FLJ11756,hdhc11 )
Gene Full Name: dynein, cytoplasmic 2, heavy chain 1
Band: 11q22.3
Quick LinksEntrez ID:79659; OMIM: 603297; Uniprot ID:DYHC2_HUMAN; ENSEMBL ID: ENSG00000187240; HGNC ID: 2962
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
blastocyst3 / 6231948
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult52 / 193912126
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 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal74 / 336030722
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain15 / 110098913
cervix0 / 481710 
connective tissue18 / 149255120
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye7 / 21105433
heart2 / 8962622
intestine3 / 23447212
kidney11 / 21177751
larynx4 / 24145165
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate4 / 18934521
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis11 / 33044233
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219469_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.45
Adipocyte3.5
AdrenalCortex3.7
Adrenalgland3
Amygdala3.7
Appendix3.55
AtrioventricularNode2.95
BDCA4+_DentriticCells3.95
Bonemarrow3.5
BronchialEpithelialCells3.55
CD105+_Endothelial3.6
CD14+_Monocytes3.8
CD19+_BCells(neg._sel.)3.8
CD33+_Myeloid4.5
CD34+4.5
CD4+_Tcells3.9
CD56+_NKCells4.25
CD71+_EarlyErythroid3.35
CD8+_Tcells3.45
CardiacMyocytes4.5
Caudatenucleus3.2
Cerebellum2.9
CerebellumPeduncles4.1
CiliaryGanglion2.75
CingulateCortex3.65
Colorectaladenocarcinoma3.55
DorsalRootGanglion2.85
FetalThyroid3.45
Fetalbrain3.5
Fetalliver3.05
Fetallung2.95
GlobusPallidus2.6
Heart4.5
Hypothalamus3.85
Kidney2.9
Leukemia_chronicMyelogenousK-5623.2
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)2.9
Liver4.65
Lung3.9
Lymphnode3.05
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)4.95
MedullaOblongata3.25
OccipitalLobe3.2
OlfactoryBulb2.85
Ovary2.45
Pancreas2.9
PancreaticIslet3.8
ParietalLobe3.75
Pituitary6
Placenta3.7
Pons3.4
PrefrontalCortex4.4
Prostate4.15
Salivarygland2.9
SkeletalMuscle4.1
Skin2.95
SmoothMuscle4.05
Spinalcord3.8
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.1
TemporalLobe3.25
Testis3
TestisGermCell3.65
TestisIntersitial3
TestisLeydigCell3.6
TestisSeminiferousTubule3.8
Thalamus3.65
Thymus2.8
Thyroid4.45
Tongue3.5
Tonsil3.45
Trachea3
TrigeminalGanglion3.55
Uterus2.9
UterusCorpus3.15
WholeBlood3.85
Wholebrain3
colon3.55
pineal_day4.5
pineal_night4.38
retina4.275
small_intestine3.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P147397
  • 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
Amygdala6.31 ± 0.59
Basal Forebrain6.6 ± 0.2
Basal Part of Pons6.99 ± 0.14
Cerebellar Cortex6.37 ± 0.3
Cerebellar Nuclei6.01 ± 0.5
Claustrum6.42 ± 0.37
Epithalamus7.89 ± 0.57
Frontal Lobe6.51 ± 0.39
Globus Pallidus6.36 ± 0.17
Hypothalamus6.88 ± 0.28
Insula6.68 ± 0.28
Limbic Lobe6.44 ± 0.38
Mesencephalon6.49 ± 0.48
Myelencephalon6.49 ± 0.53
Occipital Lobe6.69 ± 0.4
Parietal Lobe6.52 ± 0.41
Pontine Tegmentum6.38 ± 0.4
Striatum6.51 ± 0.7
Subthalamus6.34 ± 0.55
Temporal Lobe6.54 ± 0.36
Thalamus6.31 ± 0.43
White Matter6.55 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dync2h1CBCerebellum7.76
7.77
Dync2h1CTXCerebral cortex19.63
14.42
Dync2h1HIPHippocampal region22.59
27.2
Dync2h1HPFHippocampal formation22.04
22.23
Dync2h1HYHypothalamus16.42
12.49
Dync2h1LSXLateral septal complex41.03
27.28
Dync2h1MBMidbrain15.5
13.8
Dync2h1MYMedulla8.94
8.83
Dync2h1OLFOlfactory bulb16.82
13.15
Dync2h1PPons9.73
9.67
Dync2h1PALPallidum11.39
9.04
Dync2h1RHPRetrohippocampal region20.75
15.75
Dync2h1sAMYStriatum-like amygdalar nuclei31.42
21.97
Dync2h1STRStriatum8.31
6.14
Dync2h1STRdStriatum dorsal region3.76
3.29
Dync2h1STRvStriatum ventral region7.55
4.74
Dync2h1THThalamus8.15
6.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DYHC2_HUMAN_550 22 550 571 SGLCIEASSRIMELDSNDGLLK PRIDE
PAp00501727 21 1058 1078 WDQLKPGDDVIETGQHNTLDK 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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