AutismKB 2.0

Annotation Detail for COL27A1


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Basic Information Top
Gene Symbol:COL27A1 ( FLJ11895,KIAA1870,MGC11337 )
Gene Full Name: collagen, type XXVII, alpha 1
Band: 9q32
Quick LinksEntrez ID:85301; OMIM: 608461; Uniprot ID:CORA1_HUMAN; ENSEMBL ID: ENSG00000196739; HGNC ID: 22986
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 body3 / 7076142
blastocyst1 / 6231916
fetus38 / 56401267
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult50 / 193912125
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 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal103 / 336030730
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain11 / 11009899
cervix0 / 481710 
connective tissue7 / 14925546
ear4 / 16212246
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye3 / 21105414
heart4 / 8962644
intestine5 / 23447221
kidney6 / 21177728
larynx2 / 2414582
liver6 / 20774328
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary5 / 10205148
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach3 / 9661931
testis4 / 33044212
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11125_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
Amygdala2.82 ± 1.18
Basal Forebrain2.33 ± 0.36
Basal Part of Pons2.67 ± 1.23
Cerebellar Cortex3.54 ± 0.62
Cerebellar Nuclei2.66 ± 0.71
Claustrum3.47 ± 1.13
Epithalamus2.24 ± 0.72
Frontal Lobe2.21 ± 0.75
Globus Pallidus2.56 ± 0.84
Hypothalamus2.63 ± 0.63
Insula2.31 ± 0.7
Limbic Lobe2.42 ± 0.91
Mesencephalon2.82 ± 0.93
Myelencephalon2.54 ± 0.89
Occipital Lobe2.59 ± 0.91
Parietal Lobe2.59 ± 1.07
Pontine Tegmentum2.45 ± 0.71
Striatum2.21 ± 0.96
Subthalamus2.79 ± 1.05
Temporal Lobe2.45 ± 0.95
Thalamus2.48 ± 0.81
White Matter2.44 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col27a1CBCerebellum84.12
100
Col27a1CTXCerebral cortex51.12
42.04
Col27a1HIPHippocampal region37.31
55.14
Col27a1HPFHippocampal formation32.2
39.34
Col27a1HYHypothalamus25.87
22.6
Col27a1LSXLateral septal complex42.14
38
Col27a1MBMidbrain15.8
15.25
Col27a1MYMedulla53.12
64.18
Col27a1OLFOlfactory bulb56.14
56.84
Col27a1PPons33.59
40.65
Col27a1PALPallidum21.69
19.55
Col27a1RHPRetrohippocampal region26.86
23.2
Col27a1sAMYStriatum-like amygdalar nuclei32.76
29.73
Col27a1STRStriatum32.64
27.05
Col27a1STRdStriatum dorsal region29.06
23.46
Col27a1STRvStriatum ventral region38.08
29.73
Col27a1THThalamus36.94
37.93
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