AutismKB 2.0

Annotation Detail for DFNA5


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Basic Information Top
Gene Symbol:DFNA5 ( ICERE-1 )
Gene Full Name: deafness, autosomal dominant 5
Band: 7p15
Quick LinksEntrez ID:1687; OMIM: 608798; Uniprot ID:DFNA5_HUMAN; ENSEMBL ID: ENSG00000105928; HGNC ID:
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
blastocyst0 / 623190 
fetus22 / 56401239
neonate6 / 31097192
infant1 / 2362042
juvenile3 / 5555653
adult113 / 193912158
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor25 / 26384594
glioma9 / 10688384
head and neck tumor6 / 13630244
kidney tumor10 / 68959145
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor8 / 10312777
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal199 / 336030759
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood10 / 12347880
bone5 / 7165569
bone marrow1 / 4880120
brain92 / 110098983
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye14 / 21105466
heart5 / 8962655
intestine0 / 2344720 
kidney25 / 211777118
larynx1 / 2414541
liver8 / 20774338
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth5 / 6705274
muscle7 / 10771564
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta38 / 280825135
prostate3 / 18934515
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis19 / 33044257
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203695_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts964.7
Adipocyte40.4
AdrenalCortex7.1
Adrenalgland9.35
Amygdala31.7
Appendix10.65
AtrioventricularNode8.15
BDCA4+_DentriticCells5.05
Bonemarrow10.4
BronchialEpithelialCells256.65
CD105+_Endothelial7.5
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)9.75
CD33+_Myeloid9.15
CD34+6.8
CD4+_Tcells5.5
CD56+_NKCells5.5
CD71+_EarlyErythroid8.1
CD8+_Tcells4.65
CardiacMyocytes20.25
Caudatenucleus16.15
Cerebellum26.6
CerebellumPeduncles15.4
CiliaryGanglion7.55
CingulateCortex11.65
Colorectaladenocarcinoma6.4
DorsalRootGanglion7.25
FetalThyroid10.65
Fetalbrain15.35
Fetalliver14.45
Fetallung9.7
GlobusPallidus7.65
Heart12.8
Hypothalamus41.25
Kidney18.15
Leukemia_chronicMyelogenousK-56229.4
Leukemia_promyelocytic-HL-6011.65
Leukemialymphoblastic(MOLT-4)7.9
Liver14.65
Lung16.3
Lymphnode13
Lymphoma_burkitts(Daudi)13.75
Lymphoma_burkitts(Raji)15.05
MedullaOblongata16.15
OccipitalLobe16.25
OlfactoryBulb14.9
Ovary7.35
Pancreas8.35
PancreaticIslet8.55
ParietalLobe20.95
Pituitary14.5
Placenta63.7
Pons10.25
PrefrontalCortex35.45
Prostate12.85
Salivarygland7.95
SkeletalMuscle11.85
Skin7.55
SmoothMuscle85.3
Spinalcord103.2
SubthalamicNucleus12.25
SuperiorCervicalGanglion12.6
TemporalLobe10.05
Testis39.85
TestisGermCell78.1
TestisIntersitial8.9
TestisLeydigCell10.85
TestisSeminiferousTubule9.45
Thalamus17.7
Thymus6
Thyroid32.25
Tongue10.4
Tonsil8
Trachea9
TrigeminalGanglion11.5
Uterus32.65
UterusCorpus13.9
WholeBlood7.1
Wholebrain32.55
colon10.1
pineal_day20.7
pineal_night16.6
retina38.7
small_intestine12.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5972_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
Amygdala3 ± 0.82
Basal Forebrain2.44 ± 0.17
Basal Part of Pons2.74 ± 0.6
Cerebellar Cortex2.83 ± 0.65
Cerebellar Nuclei2.78 ± 0.62
Claustrum3.09 ± 0.54
Epithalamus3.48 ± 0.75
Frontal Lobe3.14 ± 0.57
Globus Pallidus2.62 ± 0.69
Hypothalamus3.19 ± 0.62
Insula3.21 ± 0.57
Limbic Lobe2.71 ± 0.71
Mesencephalon2.95 ± 0.7
Myelencephalon2.87 ± 0.62
Occipital Lobe2.48 ± 0.75
Parietal Lobe2.97 ± 0.72
Pontine Tegmentum3.02 ± 0.66
Striatum2.62 ± 0.71
Subthalamus2.86 ± 0.76
Temporal Lobe3.02 ± 0.63
Thalamus2.93 ± 0.62
White Matter2.42 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dfna5hCBCerebellum1.96
2.38
Dfna5hCTXCerebral cortex1.63
1.16
Dfna5hHIPHippocampal region1.86
2.51
Dfna5hHPFHippocampal formation1.71
1.84
Dfna5hHYHypothalamus1.65
1.32
Dfna5hLSXLateral septal complex2.44
1.46
Dfna5hMBMidbrain3.42
3.41
Dfna5hMYMedulla9.46
9.42
Dfna5hOLFOlfactory bulb2.01
1.29
Dfna5hPPons8.36
8.94
Dfna5hPALPallidum2.79
2.12
Dfna5hRHPRetrohippocampal region1.52
1.04
Dfna5hsAMYStriatum-like amygdalar nuclei0.44
0.33
Dfna5hSTRStriatum1.55
1.04
Dfna5hSTRdStriatum dorsal region1.2
0.84
Dfna5hSTRvStriatum ventral region3.64
2.15
Dfna5hTHThalamus1.44
1.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DFNA5_HUMAN_189 14 189 202 TVQVSATEDGNVTK PRIDE
DFNA5_HUMAN_262 25 262 286 EFAFIDMPDAAHGISSQDGPLSVLK PRIDE
PAp00130998 19 422 440 ALSDDGVSDLEDPTLTPLK 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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