AutismKB 2.0

Annotation Detail for ANKLE2


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Basic Information Top
Gene Symbol:ANKLE2 ( FLJ22280,FLJ36132,KIAA0692,LEMD7 )
Gene Full Name: ankyrin repeat and LEM domain containing 2
Band: 12q24.33
Quick LinksEntrez ID:23141; OMIM: NA; Uniprot ID:ANKL2_HUMAN; ENSEMBL ID: ENSG00000176915; HGNC ID: 29101
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 body10 / 70761141
blastocyst4 / 6231964
fetus29 / 56401251
neonate0 / 310970 
infant3 / 23620127
juvenile1 / 5555617
adult154 / 193912179
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma9 / 82823108
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor25 / 26384594
glioma5 / 10688346
head and neck tumor17 / 136302124
kidney tumor4 / 6895958
leukemia10 / 95842104
liver tumor5 / 9635951
lung tumor7 / 10312767
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal194 / 336030757
ovarian tumor6 / 7668278
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer8 / 10268077
retinoblastoma5 / 46356107
skin tumor14 / 124949112
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites2 / 4001549
bladder1 / 2975733
blood4 / 12347832
bone13 / 71655181
bone marrow2 / 4880140
brain51 / 110098946
cervix3 / 4817162
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye11 / 21105452
heart1 / 8962611
intestine14 / 23447259
kidney17 / 21177780
larynx0 / 241450 
liver7 / 20774333
lung36 / 336974106
lymph1 / 4427022
lymph node20 / 91610218
mammary gland11 / 15327171
mouth12 / 67052178
muscle1 / 1077159
nerve1 / 1576863
ovary6 / 10205158
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta14 / 28082549
prostate10 / 18934552
salivary gland2 / 2015599
skin23 / 210574109
spleen3 / 5395255
stomach4 / 9661941
testis62 / 330442187
thymus3 / 8113136
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus15 / 23287864
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212201_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.5
Adipocyte10.15
AdrenalCortex14.05
Adrenalgland9.15
Amygdala20.55
Appendix11.3
AtrioventricularNode8.8
BDCA4+_DentriticCells37.5
Bonemarrow12.25
BronchialEpithelialCells34.95
CD105+_Endothelial11.2
CD14+_Monocytes11.75
CD19+_BCells(neg._sel.)25.2
CD33+_Myeloid34.7
CD34+48.85
CD4+_Tcells46.25
CD56+_NKCells20.8
CD71+_EarlyErythroid15.65
CD8+_Tcells49.35
CardiacMyocytes15.7
Caudatenucleus8.5
Cerebellum10.1
CerebellumPeduncles11.5
CiliaryGanglion8.6
CingulateCortex9.15
Colorectaladenocarcinoma29.65
DorsalRootGanglion7.6
FetalThyroid10.9
Fetalbrain9.4
Fetalliver7.55
Fetallung8.95
GlobusPallidus7.55
Heart14.25
Hypothalamus7.8
Kidney8.5
Leukemia_chronicMyelogenousK-56210.9
Leukemia_promyelocytic-HL-6010.05
Leukemialymphoblastic(MOLT-4)21.9
Liver17.65
Lung31.65
Lymphnode14.85
Lymphoma_burkitts(Daudi)17.2
Lymphoma_burkitts(Raji)32.5
MedullaOblongata7.55
OccipitalLobe9.15
OlfactoryBulb7.15
Ovary6.9
Pancreas13.1
PancreaticIslet11.9
ParietalLobe13.05
Pituitary13.05
Placenta31.75
Pons14.3
PrefrontalCortex10.1
Prostate34.1
Salivarygland8.85
SkeletalMuscle13.85
Skin9
SmoothMuscle17.45
Spinalcord12.25
SubthalamicNucleus8.85
SuperiorCervicalGanglion13.1
TemporalLobe10.25
Testis290
TestisGermCell112.9
TestisIntersitial168.9
TestisLeydigCell74.95
TestisSeminiferousTubule106.85
Thalamus9.8
Thymus21.4
Thyroid22.05
Tongue12.4
Tonsil23.1
Trachea8.55
TrigeminalGanglion9.45
Uterus19.85
UterusCorpus8.35
WholeBlood12.15
Wholebrain20.35
colon9.55
pineal_day16.32
pineal_night14.28
retina12.775
small_intestine6.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P10858
  • 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
Amygdala5.28 ± 0.59
Basal Forebrain5.18 ± 0.36
Basal Part of Pons5.41 ± 0.25
Cerebellar Cortex5.5 ± 0.27
Cerebellar Nuclei4.77 ± 0.6
Claustrum5.36 ± 0.44
Epithalamus5.13 ± 0.28
Frontal Lobe5.22 ± 0.44
Globus Pallidus4.7 ± 0.4
Hypothalamus5.26 ± 0.45
Insula5.44 ± 0.36
Limbic Lobe5.25 ± 0.46
Mesencephalon5.2 ± 0.47
Myelencephalon5.11 ± 0.51
Occipital Lobe4.96 ± 0.45
Parietal Lobe5.17 ± 0.38
Pontine Tegmentum5.2 ± 0.44
Striatum4.78 ± 0.55
Subthalamus5.18 ± 0.43
Temporal Lobe5.3 ± 0.42
Thalamus5.1 ± 0.45
White Matter5.28 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D5Ertd585eCBCerebellum20
20.98
D5Ertd585eCTXCerebral cortex17.13
12.27
D5Ertd585eHIPHippocampal region18.34
20.41
D5Ertd585eHPFHippocampal formation18.29
17.69
D5Ertd585eHYHypothalamus2.12
1.85
D5Ertd585eLSXLateral septal complex2.02
1.43
D5Ertd585eMBMidbrain1.93
1.92
D5Ertd585eMYMedulla5.15
5.09
D5Ertd585eOLFOlfactory bulb23.94
18.71
D5Ertd585ePPons2.83
2.98
D5Ertd585ePALPallidum3.53
3.04
D5Ertd585eRHPRetrohippocampal region18.37
14.06
D5Ertd585esAMYStriatum-like amygdalar nuclei17.37
12.49
D5Ertd585eSTRStriatum10.55
7.88
D5Ertd585eSTRdStriatum dorsal region10.41
7.93
D5Ertd585eSTRvStriatum ventral region11.21
7.92
D5Ertd585eTHThalamus3.92
3.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005344 20 117 136 LSSFYHHEAGVTALSQDPQR 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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