AutismKB 2.0

Annotation Detail for PANK2


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Basic Information Top
Gene Symbol:PANK2 ( C20orf48,FLJ17232,HARP,HSS,MGC15053,NBIA1,PKAN )
Gene Full Name: pantothenate kinase 2
Band: 20p13
Quick LinksEntrez ID:80025; OMIM: 606157; Uniprot ID:PANK2_HUMAN; ENSEMBL ID: ENSG00000125779; HGNC ID: 15894
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 body5 / 7076170
blastocyst3 / 6231948
fetus29 / 56401251
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult60 / 193912130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor14 / 26384553
glioma7 / 10688365
head and neck tumor14 / 136302102
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor7 / 10312767
lymphoma5 / 7175569
non-neoplasia3 / 9725030
normal119 / 336030735
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder4 / 29757134
blood3 / 12347824
bone4 / 7165555
bone marrow2 / 4880140
brain27 / 110098924
cervix0 / 481710 
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye10 / 21105447
heart5 / 8962655
intestine13 / 23447255
kidney11 / 21177751
larynx4 / 24145165
liver7 / 20774333
lung23 / 33697468
lymph1 / 4427022
lymph node16 / 91610174
mammary gland6 / 15327139
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary5 / 10205148
pancreas5 / 21481223
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate5 / 18934526
salivary gland0 / 201550 
skin9 / 21057442
spleen3 / 5395255
stomach3 / 9661931
testis15 / 33044245
thymus0 / 811310 
thyroid9 / 47473189
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218809_at
Cell line Expression level Expression bar
721_B_lymphoblasts242.8
Adipocyte24.45
AdrenalCortex16.85
Adrenalgland21.65
Amygdala73.05
Appendix24.35
AtrioventricularNode15.4
BDCA4+_DentriticCells192.25
Bonemarrow34.75
BronchialEpithelialCells43.7
CD105+_Endothelial375.25
CD14+_Monocytes372.15
CD19+_BCells(neg._sel.)127.25
CD33+_Myeloid197.8
CD34+260.85
CD4+_Tcells102.85
CD56+_NKCells240.75
CD71+_EarlyErythroid146.9
CD8+_Tcells127.8
CardiacMyocytes19
Caudatenucleus17.15
Cerebellum16.65
CerebellumPeduncles7.25
CiliaryGanglion15.1
CingulateCortex27.95
Colorectaladenocarcinoma48.35
DorsalRootGanglion13.6
FetalThyroid29.1
Fetalbrain30.6
Fetalliver24
Fetallung30.1
GlobusPallidus17.6
Heart12.35
Hypothalamus77.4
Kidney10.1
Leukemia_chronicMyelogenousK-56228.9
Leukemia_promyelocytic-HL-6047.15
Leukemialymphoblastic(MOLT-4)89.8
Liver25.95
Lung58.35
Lymphnode33.75
Lymphoma_burkitts(Daudi)88.95
Lymphoma_burkitts(Raji)48.2
MedullaOblongata23.65
OccipitalLobe27.35
OlfactoryBulb25.05
Ovary12.7
Pancreas12.95
PancreaticIslet25
ParietalLobe21.3
Pituitary32.45
Placenta23.4
Pons18.3
PrefrontalCortex42.05
Prostate47.9
Salivarygland21.15
SkeletalMuscle7.75
Skin11.85
SmoothMuscle35.45
Spinalcord22.75
SubthalamicNucleus23.6
SuperiorCervicalGanglion21.65
TemporalLobe21.55
Testis71.25
TestisGermCell67.05
TestisIntersitial54.95
TestisLeydigCell24.9
TestisSeminiferousTubule32.1
Thalamus32.95
Thymus38.05
Thyroid51.05
Tongue13.05
Tonsil28.95
Trachea25.9
TrigeminalGanglion9.5
Uterus25.8
UterusCorpus20.1
WholeBlood215.8
Wholebrain62.9
colon26.75
pineal_day36.78
pineal_night32.64
retina26.975
small_intestine30.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14079_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
Amygdala8.69 ± 0.31
Basal Forebrain8.18 ± 0.13
Basal Part of Pons8.51 ± 0.24
Cerebellar Cortex8.41 ± 0.31
Cerebellar Nuclei8.09 ± 0.28
Claustrum8.55 ± 0.4
Epithalamus8.2 ± 0.3
Frontal Lobe8.33 ± 0.31
Globus Pallidus8.12 ± 0.24
Hypothalamus8.01 ± 0.57
Insula8.46 ± 0.21
Limbic Lobe8.6 ± 0.29
Mesencephalon8.25 ± 0.29
Myelencephalon8.32 ± 0.38
Occipital Lobe8.49 ± 0.18
Parietal Lobe8.36 ± 0.3
Pontine Tegmentum8.31 ± 0.27
Striatum8 ± 0.29
Subthalamus8.13 ± 0.12
Temporal Lobe8.47 ± 0.31
Thalamus8.33 ± 0.24
White Matter8.16 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pank2CBCerebellum12.39
20.09
Pank2CTXCerebral cortex2.81
2.63
Pank2HIPHippocampal region2.3
2.28
Pank2HPFHippocampal formation1.72
1.65
Pank2HYHypothalamus1.8
1.54
Pank2LSXLateral septal complex1.61
2.75
Pank2MBMidbrain6.05
6.82
Pank2MYMedulla9.45
10.29
Pank2OLFOlfactory bulb3.14
2.28
Pank2PPons4.82
5.72
Pank2PALPallidum1.87
1.53
Pank2RHPRetrohippocampal region0.83
0.86
Pank2sAMYStriatum-like amygdalar nuclei0.9
0.52
Pank2STRStriatum1.39
1.41
Pank2STRdStriatum dorsal region1.13
1.36
Pank2STRvStriatum ventral region2.53
1.53
Pank2THThalamus2.8
2.64
Peptide Top

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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