AutismKB 2.0

Annotation Detail for ANKRD27


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Basic Information Top
Gene Symbol:ANKRD27 ( DKFZp434L0718,FLJ00040,VARP )
Gene Full Name: ankyrin repeat domain 27 (VPS9 domain)
Band: 19q13.11
Quick LinksEntrez ID:84079; OMIM: NA; Uniprot ID:ANR27_HUMAN; ENSEMBL ID: ENSG00000105186; HGNC ID: 25310
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 body4 / 7076156
blastocyst5 / 6231980
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult73 / 193912137
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) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal101 / 336030730
ovarian tumor9 / 76682117
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor8 / 9025788
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 
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain15 / 110098913
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye1 / 2110544
heart3 / 8962633
intestine13 / 23447255
kidney1 / 2117774
larynx1 / 2414541
liver2 / 2077439
lung8 / 33697423
lymph0 / 442700 
lymph node25 / 91610272
mammary gland11 / 15327171
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary9 / 10205188
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta5 / 28082517
prostate2 / 18934510
salivary gland1 / 2015549
skin13 / 21057461
spleen0 / 539520 
stomach3 / 9661931
testis12 / 33044236
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221522_at
Cell line Expression level Expression bar
721_B_lymphoblasts114.55
Adipocyte8.15
AdrenalCortex10.15
Adrenalgland7.75
Amygdala22.1
Appendix12
AtrioventricularNode6.25
BDCA4+_DentriticCells33.95
Bonemarrow12.75
BronchialEpithelialCells24.65
CD105+_Endothelial97.2
CD14+_Monocytes53.7
CD19+_BCells(neg._sel.)19
CD33+_Myeloid19.75
CD34+561.9
CD4+_Tcells89.45
CD56+_NKCells89.1
CD71+_EarlyErythroid9.55
CD8+_Tcells87.4
CardiacMyocytes9.5
Caudatenucleus8.9
Cerebellum7.3
CerebellumPeduncles8.4
CiliaryGanglion6.15
CingulateCortex9
Colorectaladenocarcinoma34.3
DorsalRootGanglion7.6
FetalThyroid10.35
Fetalbrain43.3
Fetalliver7.7
Fetallung13.7
GlobusPallidus6.55
Heart10.45
Hypothalamus26.85
Kidney6.15
Leukemia_chronicMyelogenousK-56257.65
Leukemia_promyelocytic-HL-60170.65
Leukemialymphoblastic(MOLT-4)11.35
Liver8.8
Lung15.65
Lymphnode10.45
Lymphoma_burkitts(Daudi)18.35
Lymphoma_burkitts(Raji)172.95
MedullaOblongata11.05
OccipitalLobe8.7
OlfactoryBulb9.15
Ovary5.25
Pancreas8.35
PancreaticIslet8.9
ParietalLobe8.75
Pituitary8.9
Placenta35
Pons6.85
PrefrontalCortex28.75
Prostate29.65
Salivarygland7.55
SkeletalMuscle10.8
Skin7.05
SmoothMuscle18.8
Spinalcord17.05
SubthalamicNucleus7.5
SuperiorCervicalGanglion8.75
TemporalLobe8.65
Testis21.05
TestisGermCell34
TestisIntersitial12.45
TestisLeydigCell9.6
TestisSeminiferousTubule20.55
Thalamus10.8
Thymus18.55
Thyroid54.5
Tongue8.85
Tonsil10.25
Trachea7.95
TrigeminalGanglion7.9
Uterus29.65
UterusCorpus7.2
WholeBlood26.1
Wholebrain18.5
colon24.5
pineal_day51.4
pineal_night29.62
retina38.3
small_intestine18.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7398_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
Amygdala4.09 ± 0.53
Basal Forebrain3.83 ± 0.53
Basal Part of Pons3.82 ± 0.37
Cerebellar Cortex4.05 ± 0.51
Cerebellar Nuclei3.35 ± 0.51
Claustrum4.55 ± 0.67
Epithalamus4.46 ± 0.19
Frontal Lobe4.08 ± 0.5
Globus Pallidus4.15 ± 0.61
Hypothalamus3.81 ± 0.46
Insula4.03 ± 0.34
Limbic Lobe4.18 ± 0.54
Mesencephalon4.13 ± 0.54
Myelencephalon4.11 ± 0.51
Occipital Lobe4.39 ± 0.38
Parietal Lobe4.14 ± 0.55
Pontine Tegmentum4.15 ± 0.58
Striatum3.95 ± 0.61
Subthalamus3.78 ± 0.25
Temporal Lobe4 ± 0.52
Thalamus4.21 ± 0.45
White Matter3.95 ± 0.92
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ankrd27CBCerebellum1.07
1.44
Ankrd27CTXCerebral cortex0.7
0.71
Ankrd27HIPHippocampal region0.46
0.49
Ankrd27HPFHippocampal formation0.49
0.42
Ankrd27HYHypothalamus0.22
0.15
Ankrd27LSXLateral septal complex0.12
0.07
Ankrd27MBMidbrain0.37
0.26
Ankrd27MYMedulla0.69
0.54
Ankrd27OLFOlfactory bulb0.66
0.53
Ankrd27PPons0.76
0.9
Ankrd27PALPallidum0.32
0.58
Ankrd27RHPRetrohippocampal region0.5
0.27
Ankrd27sAMYStriatum-like amygdalar nuclei0.43
1.44
Ankrd27STRStriatum0.23
0.29
Ankrd27STRdStriatum dorsal region0.18
0.17
Ankrd27STRvStriatum ventral region0.39
0.25
Ankrd27THThalamus6.04
8.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00539428 28 1022 1049 HTVEDAVVSQGPEAAGPLSTPQEVSASR 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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