AutismKB 2.0

Annotation Detail for KRT1


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Basic Information Top
Gene Symbol:KRT1 ( CK1,EHK,EHK1,EPPK,K1,KRT1A,NEPPK )
Gene Full Name: keratin 1
Band: 12q13.13
Quick LinksEntrez ID:3848; OMIM: 139350; Uniprot ID:K2C1_HUMAN; ENSEMBL ID: ENSG00000167768; HGNC ID: 6412
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 
fetus34 / 56401260
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult9 / 19391214
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal425 / 3360307126
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor34 / 124949272
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 
ascites0 / 400150 
bladder2 / 2975767
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart24 / 89626267
intestine0 / 2344720 
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin425 / 2105742018
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205900_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte3.7
AdrenalCortex4.05
Adrenalgland3.05
Amygdala3.95
Appendix6.75
AtrioventricularNode3.6
BDCA4+_DentriticCells4.15
Bonemarrow74.8
BronchialEpithelialCells3.7
CD105+_Endothelial3.8
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4
CD33+_Myeloid4.75
CD34+4.8
CD4+_Tcells4
CD56+_NKCells4.5
CD71+_EarlyErythroid47.35
CD8+_Tcells3.6
CardiacMyocytes4.95
Caudatenucleus3.3
Cerebellum3.05
CerebellumPeduncles4.25
CiliaryGanglion2.75
CingulateCortex3.85
Colorectaladenocarcinoma3.8
DorsalRootGanglion2.95
FetalThyroid3.8
Fetalbrain3.7
Fetalliver12.85
Fetallung3.3
GlobusPallidus2.8
Heart4.75
Hypothalamus4.05
Kidney3.1
Leukemia_chronicMyelogenousK-5623.4
Leukemia_promyelocytic-HL-603.35
Leukemialymphoblastic(MOLT-4)3.05
Liver5.1
Lung4.1
Lymphnode3.2
Lymphoma_burkitts(Daudi)4.85
Lymphoma_burkitts(Raji)5.2
MedullaOblongata3.4
OccipitalLobe3.35
OlfactoryBulb2.95
Ovary2.9
Pancreas3.05
PancreaticIslet3.95
ParietalLobe4
Pituitary4.35
Placenta3.8
Pons4.25
PrefrontalCortex4.6
Prostate4.45
Salivarygland3.05
SkeletalMuscle4.7
Skin6712.7
SmoothMuscle4.25
Spinalcord4
SubthalamicNucleus3.45
SuperiorCervicalGanglion4.95
TemporalLobe3.45
Testis3.2
TestisGermCell3.15
TestisIntersitial3.5
TestisLeydigCell3.85
TestisSeminiferousTubule3.25
Thalamus3.8
Thymus107.1
Thyroid4.65
Tongue205.75
Tonsil3.65
Trachea3.1
TrigeminalGanglion5.25
Uterus3.05
UterusCorpus3.35
WholeBlood4.1
Wholebrain3.15
colon3.75
pineal_day4.66
pineal_night4.56
retina4.525
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14645_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
Amygdala2.55 ± 0.91
Basal Forebrain2.02 ± 0.22
Basal Part of Pons1.66 ± 0.35
Cerebellar Cortex1.85 ± 0.75
Cerebellar Nuclei2.29 ± 0.63
Claustrum2.96 ± 0.67
Epithalamus1.7 ± 0.75
Frontal Lobe1.82 ± 0.65
Globus Pallidus2.53 ± 0.28
Hypothalamus2.01 ± 0.65
Insula1.91 ± 0.57
Limbic Lobe1.94 ± 0.6
Mesencephalon2.16 ± 0.66
Myelencephalon2.01 ± 0.67
Occipital Lobe2.13 ± 0.68
Parietal Lobe2.03 ± 0.66
Pontine Tegmentum2.04 ± 0.67
Striatum2.12 ± 0.5
Subthalamus2.16 ± 0.72
Temporal Lobe1.89 ± 0.61
Thalamus1.92 ± 0.56
White Matter2.56 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Krt1CBCerebellum1.44
1.92
Krt1CTXCerebral cortex1.37
1.55
Krt1HIPHippocampal region0.24
0.2
Krt1HPFHippocampal formation0.35
0.34
Krt1HYHypothalamus0.57
1.04
Krt1LSXLateral septal complex0.08
0
Krt1MBMidbrain0.21
0.37
Krt1MYMedulla0.2
0.37
Krt1OLFOlfactory bulb1.17
2.33
Krt1PPons0.05
0.04
Krt1PALPallidum0.08
0.08
Krt1RHPRetrohippocampal region0.55
0.54
Krt1sAMYStriatum-like amygdalar nuclei0.09
0.05
Krt1STRStriatum0.09
0.08
Krt1STRdStriatum dorsal region0.07
0.07
Krt1STRvStriatum ventral region0.15
0.09
Krt1THThalamus3.58
4.56
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
K2C1_HUMAN_1 7 1 7 SRQFSSR PRIDE
K2C1_HUMAN_12 17 12 28 SGGGFSSGSAGIINYQR PRIDE
K2C1_HUMAN_185 12 185 196 SLNNQFASFIDK PRIDE
K2C1_HUMAN_199 12 199 210 FLEQQNQVLQTK PRIDE
K2C1_HUMAN_211 12 211 222 WELLQQVDTSTR PRIDE
K2C1_HUMAN_212 12 212 223 WELLQQVDTSTR PRIDE
K2C1_HUMAN_343 12 343 354 SLDLDSIIAEVK PRIDE
K2C1_HUMAN_344 12 344 355 SLDLDSIIAEVK PRIDE
K2C1_HUMAN_376 10 376 385 YEELQITAGR PRIDE
K2C1_HUMAN_377 10 377 386 YEELQITAGR PRIDE
K2C1_HUMAN_417 15 417 431 QISNLQQSISDAEQR PRIDE
K2C1_HUMAN_484 9 484 492 TLLEGEESR PRIDE
PAp00000037 14 603 616 GSGGGSSGGSIGGR 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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