AutismKB 2.0

Annotation Detail for ANKRD40


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Basic Information Top
Gene Symbol:ANKRD40 ( DKFZp451K241,MGC15396 )
Gene Full Name: ankyrin repeat domain 40
Band: 17q21.33
Quick LinksEntrez ID:91369; OMIM: NA; Uniprot ID:ANR40_HUMAN; ENSEMBL ID: ENSG00000154945; HGNC ID: 28233
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 body9 / 70761127
blastocyst1 / 6231916
fetus20 / 56401235
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult89 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal113 / 336030733
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone12 / 71655167
bone marrow1 / 4880120
brain47 / 110098942
cervix4 / 4817183
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye8 / 21105437
heart4 / 8962644
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung11 / 33697432
lymph0 / 442700 
lymph node2 / 9161021
mammary gland10 / 15327165
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach11 / 96619113
testis5 / 33044215
thymus1 / 8113112
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus14 / 23287860
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211717_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.85
Adipocyte8.6
AdrenalCortex11.45
Adrenalgland8.7
Amygdala8.85
Appendix15.95
AtrioventricularNode12.6
BDCA4+_DentriticCells8.55
Bonemarrow12.55
BronchialEpithelialCells10.4
CD105+_Endothelial9.05
CD14+_Monocytes10.75
CD19+_BCells(neg._sel.)10.5
CD33+_Myeloid12.3
CD34+13.5
CD4+_Tcells9.2
CD56+_NKCells13.75
CD71+_EarlyErythroid9.7
CD8+_Tcells7.75
CardiacMyocytes14.05
Caudatenucleus8.65
Cerebellum8
CerebellumPeduncles10.6
CiliaryGanglion9.9
CingulateCortex9.6
Colorectaladenocarcinoma14.9
DorsalRootGanglion10.35
FetalThyroid10.5
Fetalbrain8.65
Fetalliver8.3
Fetallung11.3
GlobusPallidus6.6
Heart16.2
Hypothalamus12.25
Kidney9.3
Leukemia_chronicMyelogenousK-5628.8
Leukemia_promyelocytic-HL-6010.3
Leukemialymphoblastic(MOLT-4)12.95
Liver14.7
Lung16.3
Lymphnode12.05
Lymphoma_burkitts(Daudi)15.3
Lymphoma_burkitts(Raji)16.8
MedullaOblongata7.5
OccipitalLobe7.25
OlfactoryBulb9.1
Ovary8.1
Pancreas7.8
PancreaticIslet11.55
ParietalLobe9.55
Pituitary10.65
Placenta9.9
Pons9.6
PrefrontalCortex13
Prostate11.6
Salivarygland7.2
SkeletalMuscle13.8
Skin10.05
SmoothMuscle11.4
Spinalcord10.55
SubthalamicNucleus8.2
SuperiorCervicalGanglion12.2
TemporalLobe8.45
Testis7.4
TestisGermCell8
TestisIntersitial9.7
TestisLeydigCell9.6
TestisSeminiferousTubule8.2
Thalamus9.3
Thymus13.35
Thyroid12.45
Tongue10.95
Tonsil9.9
Trachea8
TrigeminalGanglion13.5
Uterus10
UterusCorpus11.3
WholeBlood10.95
Wholebrain9.25
colon8.35
pineal_day8.9
pineal_night10.26
retina12.825
small_intestine8.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9506_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
Amygdala6.82 ± 0.61
Basal Forebrain7.46 ± 0.42
Basal Part of Pons6.94 ± 0.47
Cerebellar Cortex6.7 ± 0.21
Cerebellar Nuclei7.84 ± 0.49
Claustrum7.51 ± 0.32
Epithalamus6.99 ± 0.44
Frontal Lobe6.86 ± 0.53
Globus Pallidus8.67 ± 0.3
Hypothalamus6.85 ± 0.55
Insula6.68 ± 0.43
Limbic Lobe6.75 ± 0.55
Mesencephalon7.33 ± 0.61
Myelencephalon7.11 ± 0.58
Occipital Lobe7.22 ± 0.39
Parietal Lobe7.06 ± 0.56
Pontine Tegmentum7.19 ± 0.4
Striatum7.41 ± 0.62
Subthalamus7.5 ± 0.27
Temporal Lobe6.92 ± 0.48
Thalamus7.32 ± 0.39
White Matter8.99 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ankrd40CBCerebellum37.27
100
Ankrd40CTXCerebral cortex100
100
Ankrd40HIPHippocampal region97.95
100
Ankrd40HPFHippocampal formation100
100
Ankrd40HYHypothalamus41.06
36.11
Ankrd40LSXLateral septal complex60.72
46.48
Ankrd40MBMidbrain51.65
61.21
Ankrd40MYMedulla40.2
60.85
Ankrd40OLFOlfactory bulb99.23
100
Ankrd40PPons39.47
59.62
Ankrd40PALPallidum59.85
63.1
Ankrd40RHPRetrohippocampal region100
100
Ankrd40sAMYStriatum-like amygdalar nuclei94.5
82.57
Ankrd40STRStriatum98.67
83.95
Ankrd40STRdStriatum dorsal region100
93.56
Ankrd40STRvStriatum ventral region82.42
68.69
Ankrd40THThalamus95.53
99.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ANR40_HUMAN_1 13 1 13 MNALLEQKEQQER PRIDE
ANR40_HUMAN_274 11 274 284 ENDFIEIELDR PRIDE
PAp00079258 19 199 217 TPESTKPGPVCQPPVSQSR 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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