AutismKB 2.0

Annotation Detail for KPNA1


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Basic Information Top
Gene Symbol:KPNA1 ( IPOA5,NPI-1,RCH2,SRP1 )
Gene Full Name: karyopherin alpha 1 (importin alpha 5)
Band: 3q21.1
Quick LinksEntrez ID:3836; OMIM: 600686; Uniprot ID:IMA1_HUMAN; ENSEMBL ID: ENSG00000114030; HGNC ID: 6394
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 body6 / 7076184
blastocyst11 / 62319176
fetus57 / 564012101
neonate3 / 3109796
infant0 / 236200 
juvenile3 / 5555653
adult151 / 193912177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor30 / 263845113
glioma7 / 10688365
head and neck tumor18 / 136302132
kidney tumor4 / 6895958
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor10 / 10312796
lymphoma4 / 7175555
non-neoplasia10 / 97250102
normal333 / 336030799
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer8 / 10268077
retinoblastoma3 / 4635664
skin tumor9 / 12494972
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites3 / 4001574
bladder2 / 2975767
blood6 / 12347848
bone5 / 7165569
bone marrow2 / 4880140
brain119 / 1100989108
cervix8 / 48171166
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue21 / 21572297
esophagus2 / 2020998
eye16 / 21105475
heart3 / 8962633
intestine12 / 23447251
kidney18 / 21177784
larynx2 / 2414582
liver21 / 207743101
lung20 / 33697459
lymph4 / 4427090
lymph node3 / 9161032
mammary gland10 / 15327165
mouth12 / 67052178
muscle15 / 107715139
nerve0 / 157680 
ovary5 / 10205148
pancreas1 / 2148124
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland2 / 16585120
placenta27 / 28082596
prostate13 / 18934568
salivary gland1 / 2015549
skin21 / 21057499
spleen6 / 53952111
stomach5 / 9661951
testis58 / 330442175
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus21 / 23287890
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202056_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.9
Adipocyte3.7
AdrenalCortex4
Adrenalgland3.2
Amygdala4
Appendix3.95
AtrioventricularNode3.05
BDCA4+_DentriticCells6.15
Bonemarrow3.75
BronchialEpithelialCells3.7
CD105+_Endothelial29.1
CD14+_Monocytes4.6
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid5.8
CD34+16
CD4+_Tcells5.15
CD56+_NKCells4.6
CD71+_EarlyErythroid3.75
CD8+_Tcells5.3
CardiacMyocytes4.9
Caudatenucleus3.35
Cerebellum3
CerebellumPeduncles4.25
CiliaryGanglion2.8
CingulateCortex3.85
Colorectaladenocarcinoma3.75
DorsalRootGanglion2.95
FetalThyroid3.65
Fetalbrain7.6
Fetalliver3.25
Fetallung3.1
GlobusPallidus2.8
Heart4.85
Hypothalamus4.15
Kidney3.05
Leukemia_chronicMyelogenousK-5623.4
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver5
Lung4.1
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.8
Lymphoma_burkitts(Raji)5.25
MedullaOblongata3.45
OccipitalLobe3.35
OlfactoryBulb2.95
Ovary2.5
Pancreas3
PancreaticIslet4
ParietalLobe4
Pituitary4.35
Placenta3.9
Pons3.55
PrefrontalCortex4.7
Prostate4.4
Salivarygland3
SkeletalMuscle4.5
Skin2.95
SmoothMuscle4.25
Spinalcord4.05
SubthalamicNucleus3.45
SuperiorCervicalGanglion4.35
TemporalLobe3.45
Testis3.2
TestisGermCell3.15
TestisIntersitial3.15
TestisLeydigCell3.75
TestisSeminiferousTubule3.25
Thalamus3.8
Thymus2.95
Thyroid4.7
Tongue3.7
Tonsil3.65
Trachea3.1
TrigeminalGanglion3.8
Uterus3.15
UterusCorpus3.45
WholeBlood4.15
Wholebrain3.25
colon3.8
pineal_day8.24
pineal_night7.34
retina4.525
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P351055
  • 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
Amygdala6.07 ± 0.31
Basal Forebrain5.65 ± 0.22
Basal Part of Pons5.9 ± 0.37
Cerebellar Cortex5.49 ± 0.34
Cerebellar Nuclei6.08 ± 0.2
Claustrum6.47 ± 0.4
Epithalamus5.43 ± 0.36
Frontal Lobe5.78 ± 0.39
Globus Pallidus5.82 ± 0.27
Hypothalamus5.69 ± 0.36
Insula5.73 ± 0.3
Limbic Lobe5.94 ± 0.4
Mesencephalon5.85 ± 0.51
Myelencephalon5.78 ± 0.37
Occipital Lobe5.94 ± 0.34
Parietal Lobe5.85 ± 0.39
Pontine Tegmentum5.75 ± 0.34
Striatum5.7 ± 0.42
Subthalamus5.9 ± 0.34
Temporal Lobe5.77 ± 0.39
Thalamus5.72 ± 0.31
White Matter6.04 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kpna1CBCerebellum47.54
46.39
Kpna1CTXCerebral cortex80.86
67.2
Kpna1HIPHippocampal region78.72
71.47
Kpna1HPFHippocampal formation82.85
69.18
Kpna1HYHypothalamus39.01
20.74
Kpna1LSXLateral septal complex65.32
39.86
Kpna1MBMidbrain53.53
33.22
Kpna1MYMedulla68.6
60.37
Kpna1OLFOlfactory bulb74.41
62.57
Kpna1PPons62.59
50.83
Kpna1PALPallidum39.49
26.4
Kpna1RHPRetrohippocampal region81.4
65.91
Kpna1sAMYStriatum-like amygdalar nuclei46.03
24.56
Kpna1STRStriatum49.11
23.7
Kpna1STRdStriatum dorsal region48.64
22.53
Kpna1STRvStriatum ventral region43.93
21.34
Kpna1THThalamus42.08
23.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IMA1_HUMAN_2 9 2 10 TTPGKENFR PRIDE
IMA1_HUMAN_417 21 417 437 YLVELGCIKPLCDLLTVMDSK PRIDE
PAp00010999 11 231 241 NAVWALSNLCR 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