AutismKB 2.0

Annotation Detail for AHNAK2


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Basic Information Top
Gene Symbol:AHNAK2 ( C14orf78,KIAA2019 )
Gene Full Name: AHNAK nucleoprotein 2
Band: 14q32.33
Quick LinksEntrez ID:113146; OMIM: 608570; Uniprot ID:AHNK2_HUMAN; ENSEMBL ID: ENSG00000185567; HGNC ID: 20125
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 
fetus21 / 56401237
neonate6 / 31097192
infant2 / 2362084
juvenile4 / 5555671
adult96 / 193912149
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor2 / 2638457
glioma7 / 10688365
head and neck tumor9 / 13630266
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal126 / 336030737
ovarian tumor4 / 7668252
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone8 / 71655111
bone marrow0 / 488010 
brain33 / 110098929
cervix1 / 4817120
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye21 / 21105499
heart5 / 8962655
intestine8 / 23447234
kidney14 / 21177766
larynx0 / 241450 
liver14 / 20774367
lung19 / 33697456
lymph0 / 442700 
lymph node3 / 9161032
mammary gland9 / 15327158
mouth6 / 6705289
muscle0 / 1077150 
nerve3 / 15768190
ovary4 / 10205139
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta3 / 28082510
prostate5 / 18934526
salivary gland0 / 201550 
skin20 / 21057494
spleen0 / 539520 
stomach3 / 9661931
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord6 / 13680438
uterus23 / 23287898
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212992_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte83.95
AdrenalCortex4.15
Adrenalgland3.3
Amygdala4.75
Appendix4.05
AtrioventricularNode3.1
BDCA4+_DentriticCells4.35
Bonemarrow3.8
BronchialEpithelialCells761.65
CD105+_Endothelial3.95
CD14+_Monocytes4.05
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5
CD34+4.95
CD4+_Tcells4.25
CD56+_NKCells4.65
CD71+_EarlyErythroid3.65
CD8+_Tcells3.8
CardiacMyocytes5.05
Caudatenucleus3.5
Cerebellum3.15
CerebellumPeduncles4.4
CiliaryGanglion50.65
CingulateCortex4.15
Colorectaladenocarcinoma4.15
DorsalRootGanglion70.3
FetalThyroid3.8
Fetalbrain4.6
Fetalliver3.3
Fetallung3.15
GlobusPallidus2.85
Heart4.9
Hypothalamus5.3
Kidney3.1
Leukemia_chronicMyelogenousK-5623.5
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.1
Liver5.15
Lung4.3
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.9
Lymphoma_burkitts(Raji)5.4
MedullaOblongata3.55
OccipitalLobe3.6
OlfactoryBulb3
Ovary2.55
Pancreas3.1
PancreaticIslet4.15
ParietalLobe4.1
Pituitary4.5
Placenta5.5
Pons3.7
PrefrontalCortex6.3
Prostate8.55
Salivarygland3.1
SkeletalMuscle4.45
Skin162.55
SmoothMuscle6.5
Spinalcord10.55
SubthalamicNucleus3.5
SuperiorCervicalGanglion4.4
TemporalLobe3.55
Testis3.35
TestisGermCell7.75
TestisIntersitial3.2
TestisLeydigCell3.85
TestisSeminiferousTubule3.3
Thalamus37.7
Thymus2.9
Thyroid4.85
Tongue101.85
Tonsil3.75
Trachea10.7
TrigeminalGanglion4.45
Uterus73
UterusCorpus6.55
WholeBlood4.15
Wholebrain4.9
colon31.9
pineal_day4.88
pineal_night4.7
retina61.7
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P311912
  • 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
Amygdala5.68 ± 0.89
Basal Forebrain6.51 ± 0.62
Basal Part of Pons7.28 ± 0.23
Cerebellar Cortex6.88 ± 0.31
Cerebellar Nuclei7.25 ± 0.27
Claustrum6.66 ± 0.68
Epithalamus7.04 ± 0.62
Frontal Lobe7.27 ± 0.47
Globus Pallidus5.58 ± 0.86
Hypothalamus7.51 ± 0.6
Insula6.86 ± 0.34
Limbic Lobe6.16 ± 1.05
Mesencephalon6.54 ± 1.01
Myelencephalon6.55 ± 1.02
Occipital Lobe5.4 ± 1.3
Parietal Lobe6.65 ± 0.72
Pontine Tegmentum6.61 ± 1.2
Striatum4.11 ± 1.03
Subthalamus7.28 ± 0.25
Temporal Lobe6.85 ± 0.47
Thalamus7.11 ± 1.01
White Matter4.21 ± 0.79
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AHNK2_HUMAN_422 14 422 435 TLEGQAQETAVAQR PRIDE
PAp00096352 23 4772 4794 LDLTGPHFESSILSPCEDVTLTK 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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