AutismKB 2.0

Annotation Detail for KRTAP5-1


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Basic Information Top
Gene Symbol:KRTAP5-1 ( KRN1L,KRTAP5.1 )
Gene Full Name: keratin associated protein 5-1
Band: 11p15.5
Quick LinksEntrez ID:387264; OMIM: 148022; Uniprot ID:KRA51_HUMAN; ENSEMBL ID: ENSG00000205869; HGNC ID: 23596
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal0 / 33603070 
ovarian tumor1 / 7668213
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 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 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
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 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P247408
  • 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
Amygdala10.6 ± 0.71
Basal Forebrain10.59 ± 0.23
Basal Part of Pons10.08 ± 0.36
Cerebellar Cortex9.56 ± 0.35
Cerebellar Nuclei10.85 ± 0.43
Claustrum11.03 ± 0.8
Epithalamus9.12 ± 0.78
Frontal Lobe10.18 ± 0.74
Globus Pallidus11.08 ± 0.15
Hypothalamus10.02 ± 0.54
Insula10 ± 0.47
Limbic Lobe10.24 ± 0.76
Mesencephalon10.48 ± 0.49
Myelencephalon10.37 ± 0.8
Occipital Lobe10.35 ± 0.71
Parietal Lobe10.38 ± 0.72
Pontine Tegmentum10.39 ± 0.67
Striatum11.15 ± 0.72
Subthalamus10.38 ± 0.49
Temporal Lobe10.02 ± 0.6
Thalamus10.62 ± 0.45
White Matter10.01 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Krtap5-2CBCerebellum0.53
0.92
Krtap5-2CTXCerebral cortex0.4
0.66
Krtap5-2HIPHippocampal region0.16
0.26
Krtap5-2HPFHippocampal formation0.18
0.27
Krtap5-2HYHypothalamus4.38
5.86
Krtap5-2LSXLateral septal complex0
0
Krtap5-2MBMidbrain0.18
0.27
Krtap5-2MYMedulla0.32
0.37
Krtap5-2OLFOlfactory bulb0.19
0.33
Krtap5-2PPons0.75
0.84
Krtap5-2PALPallidum0.15
0.19
Krtap5-2RHPRetrohippocampal region0.11
0.13
Krtap5-2sAMYStriatum-like amygdalar nuclei0
0
Krtap5-2STRStriatum0.09
0.16
Krtap5-2STRdStriatum dorsal region0.09
0.19
Krtap5-2STRvStriatum ventral region0.09
0.17
Krtap5-2THThalamus0.13
0.14
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