AutismKB 2.0

Annotation Detail for DYNC1H1


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Basic Information Top
Gene Symbol:DYNC1H1 ( DHC1,DHC1a,DKFZp686P2245,DNCH1,DNCL,DNECL,DYHC,Dnchc1,HL-3,KIAA0325,p22 )
Gene Full Name: dynein, cytoplasmic 1, heavy chain 1
Band: 14q32.31
Quick LinksEntrez ID:1778; OMIM: 600112; Uniprot ID:DYHC1_HUMAN; ENSEMBL ID: ENSG00000197102; HGNC ID: 2961
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 
adult2 / 19391211
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal2 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland1 / 2015549
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211928_at
Cell line Expression level Expression bar
721_B_lymphoblasts285.55
Adipocyte228.15
AdrenalCortex76.05
Adrenalgland57
Amygdala378.85
Appendix53.3
AtrioventricularNode57.35
BDCA4+_DentriticCells237.7
Bonemarrow40.65
BronchialEpithelialCells300.5
CD105+_Endothelial180.2
CD14+_Monocytes269.85
CD19+_BCells(neg._sel.)105.8
CD33+_Myeloid282.45
CD34+330.5
CD4+_Tcells334.5
CD56+_NKCells269.3
CD71+_EarlyErythroid78.4
CD8+_Tcells273.8
CardiacMyocytes109.6
Caudatenucleus253.15
Cerebellum210.9
CerebellumPeduncles500.95
CiliaryGanglion137.7
CingulateCortex577.3
Colorectaladenocarcinoma229.35
DorsalRootGanglion152.8
FetalThyroid163.65
Fetalbrain548.4
Fetalliver24.7
Fetallung96.95
GlobusPallidus342.7
Heart90.7
Hypothalamus687.6
Kidney67.85
Leukemia_chronicMyelogenousK-562108.7
Leukemia_promyelocytic-HL-6088.05
Leukemialymphoblastic(MOLT-4)82.15
Liver35.3
Lung167.65
Lymphnode74.3
Lymphoma_burkitts(Daudi)135.55
Lymphoma_burkitts(Raji)290
MedullaOblongata392.55
OccipitalLobe449.65
OlfactoryBulb228.15
Ovary58.85
Pancreas64.65
PancreaticIslet80.35
ParietalLobe552.7
Pituitary261.55
Placenta187.2
Pons302.65
PrefrontalCortex1082.15
Prostate214.1
Salivarygland92.1
SkeletalMuscle57.9
Skin66.8
SmoothMuscle297.7
Spinalcord392.55
SubthalamicNucleus480.8
SuperiorCervicalGanglion69.6
TemporalLobe372.6
Testis126.1
TestisGermCell300.65
TestisIntersitial163.1
TestisLeydigCell84.85
TestisSeminiferousTubule158.45
Thalamus579.4
Thymus121
Thyroid173.85
Tongue86.4
Tonsil73.3
Trachea63.7
TrigeminalGanglion94.55
Uterus199.65
UterusCorpus61.05
WholeBlood56
Wholebrain481.75
colon78.5
pineal_day508.46
pineal_night476.94
retina289.175
small_intestine89.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P128706
  • 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
Amygdala11.25 ± 0.49
Basal Forebrain11.52 ± 0.26
Basal Part of Pons12.21 ± 0.19
Cerebellar Cortex11.87 ± 0.23
Cerebellar Nuclei11.92 ± 0.32
Claustrum11.49 ± 0.45
Epithalamus11.49 ± 0.24
Frontal Lobe11.88 ± 0.33
Globus Pallidus11.12 ± 0.31
Hypothalamus11.84 ± 0.26
Insula11.85 ± 0.23
Limbic Lobe11.63 ± 0.55
Mesencephalon11.59 ± 0.39
Myelencephalon11.64 ± 0.51
Occipital Lobe11.3 ± 0.55
Parietal Lobe11.72 ± 0.4
Pontine Tegmentum11.62 ± 0.36
Striatum11.08 ± 0.4
Subthalamus12.05 ± 0.1
Temporal Lobe11.87 ± 0.37
Thalamus11.7 ± 0.32
White Matter11.35 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dync1h1CBCerebellum67.04
100
Dync1h1CTXCerebral cortex100
100
Dync1h1HIPHippocampal region100
100
Dync1h1HPFHippocampal formation100
100
Dync1h1HYHypothalamus100
100
Dync1h1LSXLateral septal complex100
100
Dync1h1MBMidbrain100
100
Dync1h1MYMedulla100
100
Dync1h1OLFOlfactory bulb100
100
Dync1h1PPons100
100
Dync1h1PALPallidum100
100
Dync1h1RHPRetrohippocampal region100
100
Dync1h1sAMYStriatum-like amygdalar nuclei100
100
Dync1h1STRStriatum100
100
Dync1h1STRdStriatum dorsal region100
100
Dync1h1STRvStriatum ventral region100
100
Dync1h1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DYHC1_HUMAN_0 0 0 0 GIFEALRPLETLPVEGLIR PRIDE
DYHC1_HUMAN_0 0 0 0 VNFLPEIITLSK PRIDE
DYHC1_HUMAN_1131 18 1131 1148 FGQMLGSNMTEFHSQISK PRIDE
DYHC1_HUMAN_122 15 122 136 TPVIDADKPVSSQLR PRIDE
DYHC1_HUMAN_1309 16 1309 1324 QNLDALLNQLKSFPAR PRIDE
DYHC1_HUMAN_1361 11 1361 1371 QNLDALLNQLK PRIDE
DYHC1_HUMAN_1585 15 1585 1599 SPLVMDVLNIQGVQR PRIDE
DYHC1_HUMAN_1850 16 1850 1865 QTDVLQQLSIQMANAK PRIDE
DYHC1_HUMAN_1888 12 1888 1899 CYLTMTQALEAR PRIDE
DYHC1_HUMAN_2008 18 2008 2025 VSPDMAIFITMNPGYAGR PRIDE
DYHC1_HUMAN_2384 13 2384 2396 SIPLDEGEDEAQR PRIDE
DYHC1_HUMAN_2399 19 2399 2417 KGKEDEGEEAASPMLQIQR PRIDE
DYHC1_HUMAN_2400 18 2400 2417 GKEDEGEEAASPMLQIQR PRIDE
DYHC1_HUMAN_2402 16 2402 2417 EDEGEEAASPMLQIQR PRIDE
DYHC1_HUMAN_2418 18 2418 2435 DAATIMQPYFTSNGLVTK PRIDE
DYHC1_HUMAN_2436 16 2436 2451 ALEHAFQLEHIMDLTR PRIDE
DYHC1_HUMAN_2602 9 2602 2610 TMTLFSALR PRIDE
DYHC1_HUMAN_2611 23 2611 2633 ALPDMEVVGLNFSSATTPELLLK PRIDE
DYHC1_HUMAN_2685 10 2685 2694 QMVEHGGFYR PRIDE
DYHC1_HUMAN_2990 18 2990 3007 IAFIMDESNVLDSGFLER PRIDE
DYHC1_HUMAN_3061 16 3061 3076 NLHVVFTMNPSSEGLK PRIDE
DYHC1_HUMAN_3191 16 3191 3206 RSELEEQQMHLNVGLR PRIDE
DYHC1_HUMAN_3255 12 3255 3266 VMSQEIQEQLHK PRIDE
DYHC1_HUMAN_3309 10 3309 3318 SMANPPAAVK PRIDE
DYHC1_HUMAN_3430 9 3430 3438 ANEVEQMIR PRIDE
DYHC1_HUMAN_3475 12 3475 3486 STALLKSLSAER PRIDE
DYHC1_HUMAN_355 11 355 365 QALVAIFTHLR PRIDE
DYHC1_HUMAN_3692 16 3692 3707 QLEKSLLQALNEVKGR PRIDE
DYHC1_HUMAN_3874 16 3874 3889 GMLHQDHITFAMLLAR PRIDE
DYHC1_HUMAN_4245 11 4245 4255 TLMAQSIYGGR PRIDE
DYHC1_HUMAN_4288 14 4288 4301 VDGHKDIQMPDGIR PRIDE
DYHC1_HUMAN_4293 9 4293 4301 DIQMPDGIR PRIDE
DYHC1_HUMAN_4366 13 4366 4378 TDSTSDGRPAWMR PRIDE
DYHC1_HUMAN_541 11 541 551 EGTEAWEAAMK PRIDE
DYHC1_HUMAN_577 7 577 583 NANEMFR PRIDE
DYHC1_HUMAN_934 21 934 954 AEVDMDTDAPQVSHKPGGEPK PRIDE
PAp00001491 12 1888 1899 CYLTMTQALEAR 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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