AutismKB 2.0

Annotation Detail for COL19A1


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Basic Information Top
Gene Symbol:COL19A1 ( COL9A1L,D6S228E )
Gene Full Name: collagen, type XIX, alpha 1
Band: 6q13
Quick LinksEntrez ID:1310; OMIM: 120165; Uniprot ID:COJA1_HUMAN; ENSEMBL ID: ENSG00000082293; HGNC ID: 2196
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult4 / 19391212
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 
chondrosarcoma1 / 8282312
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 
normal15 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
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 
bone1 / 7165513
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211011_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.8
Adipocyte3.8
AdrenalCortex4.5
Adrenalgland3.4
Amygdala4
Appendix4.1
AtrioventricularNode3.3
BDCA4+_DentriticCells4.4
Bonemarrow4
BronchialEpithelialCells3.8
CD105+_Endothelial3.9
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5
CD34+4.8
CD4+_Tcells4.1
CD56+_NKCells4.55
CD71+_EarlyErythroid3.65
CD8+_Tcells3.7
CardiacMyocytes5.7
Caudatenucleus3.45
Cerebellum3.1
CerebellumPeduncles4.45
CiliaryGanglion2.8
CingulateCortex4.15
Colorectaladenocarcinoma3.85
DorsalRootGanglion3.05
FetalThyroid3.75
Fetalbrain3.8
Fetalliver3.4
Fetallung3.15
GlobusPallidus3
Heart5.55
Hypothalamus4.15
Kidney3.25
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.15
Liver5.5
Lung4.2
Lymphnode3.3
Lymphoma_burkitts(Daudi)5.05
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.6
OccipitalLobe3.45
OlfactoryBulb3.05
Ovary3.25
Pancreas3.2
PancreaticIslet4.15
ParietalLobe4.2
Pituitary4.5
Placenta3.95
Pons3.75
PrefrontalCortex4.7
Prostate4.5
Salivarygland3.15
SkeletalMuscle4.55
Skin3.3
SmoothMuscle4.4
Spinalcord4.1
SubthalamicNucleus3.6
SuperiorCervicalGanglion5
TemporalLobe3.6
Testis3.3
TestisGermCell3.25
TestisIntersitial3.25
TestisLeydigCell3.85
TestisSeminiferousTubule3.3
Thalamus3.9
Thymus3
Thyroid4.8
Tongue4.1
Tonsil3.8
Trachea3.2
TrigeminalGanglion7.05
Uterus3.1
UterusCorpus3.7
WholeBlood4.25
Wholebrain3.3
colon3.85
pineal_day4.8
pineal_night4.7
retina4.65
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11081_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
Amygdala2.94 ± 0.86
Basal Forebrain2.32 ± 0.19
Basal Part of Pons2.23 ± 0.46
Cerebellar Cortex3.24 ± 0.68
Cerebellar Nuclei2.69 ± 0.71
Claustrum3.19 ± 0.9
Epithalamus2.16 ± 0.86
Frontal Lobe2.47 ± 0.8
Globus Pallidus2.23 ± 0.58
Hypothalamus2.32 ± 0.7
Insula2.23 ± 0.53
Limbic Lobe2.77 ± 0.99
Mesencephalon2.7 ± 0.81
Myelencephalon2.54 ± 0.76
Occipital Lobe3.22 ± 0.9
Parietal Lobe2.64 ± 0.86
Pontine Tegmentum2.7 ± 0.87
Striatum2.1 ± 0.73
Subthalamus2.61 ± 0.7
Temporal Lobe2.5 ± 0.85
Thalamus2.42 ± 0.8
White Matter2.22 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col19a1CBCerebellum20.47
25.78
Col19a1CTXCerebral cortex70.18
62.35
Col19a1HIPHippocampal region37.99
59.75
Col19a1HPFHippocampal formation48.86
61.99
Col19a1HYHypothalamus24.14
20.91
Col19a1LSXLateral septal complex16.3
13.3
Col19a1MBMidbrain22.96
22.06
Col19a1MYMedulla22.32
25.51
Col19a1OLFOlfactory bulb46.74
41.72
Col19a1PPons31.03
35.56
Col19a1PALPallidum21.12
19.25
Col19a1RHPRetrohippocampal region65.01
66.06
Col19a1sAMYStriatum-like amygdalar nuclei14.78
12.34
Col19a1STRStriatum20.73
17.72
Col19a1STRdStriatum dorsal region21.37
18.63
Col19a1STRvStriatum ventral region23.42
19.22
Col19a1THThalamus18.83
16.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
COJA1_HUMAN_637 10 637 646 AGEPGIQGPR PRIDE

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