AutismKB 2.0

Annotation Detail for KLK1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KLK1 ( KLKR,Klk6,hK1 )
Gene Full Name: kallikrein 1
Band: 19q13.33
Quick LinksEntrez ID:3816; OMIM: 147910; Uniprot ID:KLK1_HUMAN; ENSEMBL ID: ENSG00000167748; HGNC ID: 6357
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult33 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal57 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder3 / 29757100
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine4 / 23447217
kidney21 / 21177799
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas29 / 214812135
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland4 / 20155198
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216699_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts91.75
Adipocyte38.1
AdrenalCortex58.65
Adrenalgland53.35
Amygdala33.3
Appendix24.4
AtrioventricularNode52.35
BDCA4+_DentriticCells36.9
Bonemarrow48.8
BronchialEpithelialCells18.75
CD105+_Endothelial38.95
CD14+_Monocytes41.15
CD19+_BCells(neg._sel.)59.2
CD33+_Myeloid50
CD34+49
CD4+_Tcells38.6
CD56+_NKCells43.2
CD71+_EarlyErythroid35.8
CD8+_Tcells37.55
CardiacMyocytes47.65
Caudatenucleus34.5
Cerebellum35.65
CerebellumPeduncles91.65
CiliaryGanglion27.25
CingulateCortex53
Colorectaladenocarcinoma60
DorsalRootGanglion28.85
FetalThyroid37.25
Fetalbrain36.95
Fetalliver32.85
Fetallung25.55
GlobusPallidus54.95
Heart47.75
Hypothalamus39.4
Kidney204.95
Leukemia_chronicMyelogenousK-56264.4
Leukemia_promyelocytic-HL-6033.95
Leukemialymphoblastic(MOLT-4)34.35
Liver49.75
Lung38.3
Lymphnode33.3
Lymphoma_burkitts(Daudi)74.05
Lymphoma_burkitts(Raji)235.3
MedullaOblongata35.3
OccipitalLobe39.6
OlfactoryBulb30.45
Ovary25.3
Pancreas4087
PancreaticIslet1794.7
ParietalLobe46.65
Pituitary61.1
Placenta34.25
Pons38.1
PrefrontalCortex36.7
Prostate113.9
Salivarygland1916.45
SkeletalMuscle56.6
Skin69.45
SmoothMuscle43.65
Spinalcord56.05
SubthalamicNucleus34.85
SuperiorCervicalGanglion42.9
TemporalLobe62.85
Testis36.85
TestisGermCell32.45
TestisIntersitial35.05
TestisLeydigCell37.9
TestisSeminiferousTubule35.45
Thalamus113.1
Thymus25.7
Thyroid35.8
Tongue44.4
Tonsil40.35
Trachea31.45
TrigeminalGanglion38.6
Uterus17.3
UterusCorpus19.2
WholeBlood28.3
Wholebrain11
colon82.45
pineal_day41.92
pineal_night34.98
retina34.775
small_intestine29.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12168_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
Amygdala2.6 ± 0.96
Basal Forebrain1.7 ± 0.19
Basal Part of Pons1.63 ± 0.36
Cerebellar Cortex1.66 ± 0.65
Cerebellar Nuclei2.11 ± 0.68
Claustrum3.21 ± 1.06
Epithalamus1.62 ± 0.8
Frontal Lobe1.91 ± 0.74
Globus Pallidus2.67 ± 0.62
Hypothalamus1.9 ± 0.7
Insula1.68 ± 0.3
Limbic Lobe2.11 ± 0.76
Mesencephalon2.17 ± 0.91
Myelencephalon1.97 ± 0.65
Occipital Lobe2.08 ± 0.7
Parietal Lobe2.13 ± 0.9
Pontine Tegmentum2.06 ± 0.84
Striatum2.3 ± 0.69
Subthalamus2.09 ± 0.71
Temporal Lobe1.87 ± 0.79
Thalamus1.87 ± 0.69
White Matter2.37 ± 0.29
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00435270 16 163 178 PENFSFPDDLQCVDLK 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