AutismKB 2.0

Annotation Detail for KRT7


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Basic Information Top
Gene Symbol:KRT7 ( CK7,K2C7,K7,MGC129731,MGC3625,SCL )
Gene Full Name: keratin 7
Band: 12q13.13
Quick LinksEntrez ID:3855; OMIM: 148059; Uniprot ID:K2C7_HUMAN; ENSEMBL ID: ENSG00000135480; HGNC ID: 6445
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 body25 / 70761353
blastocyst1 / 6231916
fetus14 / 56401224
neonate3 / 3109796
infant0 / 236200 
juvenile0 / 555560 
adult739 / 1939121381
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma98 / 174755608
breast (mammary gland) tumor21 / 94178222
cervical tumor51 / 343661484
chondrosarcoma1 / 8282312
colorectal tumor17 / 114246148
esophageal tumor6 / 17290347
gastrointestinal tumor22 / 119369184
germ cell tumor13 / 26384549
glioma0 / 1068830 
head and neck tumor110 / 136302807
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor24 / 96359249
lung tumor138 / 1031271338
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal505 / 3360307150
ovarian tumor74 / 76682965
pancreatic tumor93 / 104616888
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer31 / 102680301
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor130 / 902571440
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal6 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder111 / 297573730
blood3 / 12347824
bone0 / 716550 
bone marrow1 / 4880120
brain8 / 11009897
cervix51 / 481711058
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue27 / 215722125
esophagus6 / 20209296
eye9 / 21105442
heart0 / 896260 
intestine17 / 23447272
kidney108 / 211777509
larynx2 / 2414582
liver26 / 207743125
lung196 / 336974581
lymph0 / 442700 
lymph node0 / 916100 
mammary gland100 / 153271652
mouth7 / 67052104
muscle2 / 10771518
nerve0 / 157680 
ovary75 / 102051734
pancreas110 / 214812512
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta230 / 280825819
prostate50 / 189345264
salivary gland9 / 20155446
skin8 / 21057437
spleen0 / 539520 
stomach27 / 96619279
testis1 / 3304423
thymus1 / 8113112
thyroid111 / 474732338
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord4 / 13680292
uterus158 / 232878678
vascular14 / 51780270
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209016_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6
Adipocyte4.15
AdrenalCortex4.5
Adrenalgland3.5
Amygdala4.3
Appendix4.25
AtrioventricularNode3.25
BDCA4+_DentriticCells4.5
Bonemarrow4.1
BronchialEpithelialCells1227.3
CD105+_Endothelial4.15
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.3
CD34+5.2
CD4+_Tcells4.45
CD56+_NKCells4.95
CD71+_EarlyErythroid3.9
CD8+_Tcells3.95
CardiacMyocytes128.45
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.75
CiliaryGanglion3.05
CingulateCortex4.4
Colorectaladenocarcinoma5.85
DorsalRootGanglion3.2
FetalThyroid443.1
Fetalbrain4.05
Fetalliver3.6
Fetallung250
GlobusPallidus3.15
Heart5.4
Hypothalamus4.5
Kidney5.7
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver5.5
Lung432.45
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.9
MedullaOblongata3.8
OccipitalLobe3.7
OlfactoryBulb3.25
Ovary2.75
Pancreas5.25
PancreaticIslet48.45
ParietalLobe4.4
Pituitary4.85
Placenta737.5
Pons3.95
PrefrontalCortex5.1
Prostate50.65
Salivarygland63.6
SkeletalMuscle5.6
Skin8.35
SmoothMuscle174.8
Spinalcord4.4
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.8
TemporalLobe3.8
Testis3.5
TestisGermCell3.45
TestisIntersitial3.45
TestisLeydigCell4.1
TestisSeminiferousTubule3.55
Thalamus4.25
Thymus3.25
Thyroid2912.75
Tongue4.2
Tonsil4.15
Trachea39.65
TrigeminalGanglion4.25
Uterus3.4
UterusCorpus4
WholeBlood4.45
Wholebrain3.45
colon4.15
pineal_day5.16
pineal_night5.04
retina5
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15915_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
Amygdala3.42 ± 1.1
Basal Forebrain2.78 ± 0.55
Basal Part of Pons2.76 ± 0.64
Cerebellar Cortex2.4 ± 0.59
Cerebellar Nuclei3.1 ± 0.5
Claustrum3.47 ± 0.69
Epithalamus3.61 ± 0.34
Frontal Lobe2.81 ± 0.76
Globus Pallidus3.6 ± 0.62
Hypothalamus2.51 ± 0.99
Insula2.46 ± 0.7
Limbic Lobe2.98 ± 0.81
Mesencephalon3.04 ± 0.73
Myelencephalon3.02 ± 0.76
Occipital Lobe3.16 ± 0.69
Parietal Lobe2.94 ± 0.84
Pontine Tegmentum2.88 ± 0.73
Striatum3.76 ± 0.74
Subthalamus2.71 ± 0.69
Temporal Lobe2.79 ± 0.82
Thalamus2.69 ± 0.69
White Matter3.74 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Krt7CBCerebellum0.38
0.73
Krt7CTXCerebral cortex0.88
0.99
Krt7HIPHippocampal region0.18
0.49
Krt7HPFHippocampal formation0.17
0.47
Krt7HYHypothalamus0.28
0.41
Krt7LSXLateral septal complex0.06
0
Krt7MBMidbrain0.46
0.94
Krt7MYMedulla0.4
0.41
Krt7OLFOlfactory bulb0.77
2.15
Krt7PPons0.45
1.22
Krt7PALPallidum0.16
0.15
Krt7RHPRetrohippocampal region0.15
0.38
Krt7sAMYStriatum-like amygdalar nuclei0.56
0.57
Krt7STRStriatum0.64
0.72
Krt7STRdStriatum dorsal region0.59
0.6
Krt7STRvStriatum ventral region0.26
0.2
Krt7THThalamus0.32
0.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
K2C7_HUMAN_136 13 136 148 LPDIFEAQIAGLR PRIDE
K2C7_HUMAN_187 11 187 197 TAAENEFVVLK PRIDE
K2C7_HUMAN_214 12 214 225 VDALNDEINFLR PRIDE
K2C7_HUMAN_253 12 253 264 SLDLDGIIAEVK PRIDE
K2C7_HUMAN_276 10 276 285 AEAEAWYQTK PRIDE
K2C7_HUMAN_286 10 286 295 FETLQAQAGK PRIDE
K2C7_HUMAN_30 16 30 45 PGGLGSSSLYGLGASR PRIDE
K2C7_HUMAN_30 18 30 47 PGGLGSSSLYGLGASRPR PRIDE
K2C7_HUMAN_317 9 317 325 LQAEIDNIK PRIDE
K2C7_HUMAN_329 13 329 341 AKLEAAIAEAEER PRIDE
K2C7_HUMAN_331 11 331 341 LEAAIAEAEER PRIDE
K2C7_HUMAN_351 12 351 362 AKQEELEAALQR PRIDE
K2C7_HUMAN_52 12 52 63 SAYGGPVGAGIR PRIDE
K2C7_HUMAN_53 11 53 63 AYGGPVGAGIR PRIDE
K2C7_HUMAN_64 13 64 76 EVTINQSLLAPLR PRIDE
K2C7_HUMAN_77 9 77 85 LDADPSLQR PRIDE
K2C7_HUMAN_86 10 86 95 VRQEESEQIK PRIDE
PAp00032364 12 352 363 AKQEELEAALQR 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