AutismKB 2.0

Annotation Detail for MATN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MATN1 ( CMP,CRTM )
Gene Full Name: matrilin 1, cartilage matrix protein
Band: 1p35.2
Quick LinksEntrez ID:4146; OMIM: 115437; Uniprot ID:MATN1_HUMAN; ENSEMBL ID: ENSG00000162510; HGNC ID: 6907
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 
fetus46 / 56401281
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult10 / 19391215
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal64 / 336030719
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 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 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue45 / 215722208
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206904_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.25
Adipocyte4.95
AdrenalCortex5.55
Adrenalgland4.3
Amygdala5.25
Appendix7.35
AtrioventricularNode5.85
BDCA4+_DentriticCells5.6
Bonemarrow4.7
BronchialEpithelialCells5.05
CD105+_Endothelial6.85
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid6.05
CD34+6.6
CD4+_Tcells5.5
CD56+_NKCells5.75
CD71+_EarlyErythroid4.8
CD8+_Tcells4.75
CardiacMyocytes7.2
Caudatenucleus4.55
Cerebellum4.15
CerebellumPeduncles5.75
CiliaryGanglion3.85
CingulateCortex5.25
Colorectaladenocarcinoma6.8
DorsalRootGanglion5
FetalThyroid5
Fetalbrain5.1
Fetalliver4.4
Fetallung4.2
GlobusPallidus3.7
Heart6.55
Hypothalamus5.45
Kidney4
Leukemia_chronicMyelogenousK-5624.55
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.05
Liver7.2
Lung5.7
Lymphnode4.95
Lymphoma_burkitts(Daudi)6.5
Lymphoma_burkitts(Raji)12.35
MedullaOblongata4.75
OccipitalLobe4.55
OlfactoryBulb4
Ovary3.3
Pancreas4.05
PancreaticIslet5.05
ParietalLobe5.5
Pituitary5.8
Placenta5.25
Pons6.05
PrefrontalCortex6.15
Prostate6.05
Salivarygland4.05
SkeletalMuscle7
Skin5.25
SmoothMuscle5.7
Spinalcord5.4
SubthalamicNucleus4.55
SuperiorCervicalGanglion12.45
TemporalLobe4.7
Testis4.35
TestisGermCell4.3
TestisIntersitial4.25
TestisLeydigCell5.1
TestisSeminiferousTubule4.35
Thalamus5.15
Thymus3.95
Thyroid7.35
Tongue5.7
Tonsil4.95
Trachea4.4
TrigeminalGanglion5.5
Uterus4.1
UterusCorpus4.95
WholeBlood5.45
Wholebrain4.4
colon5.1
pineal_day6.3
pineal_night6.24
retina7.125
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P902988
  • 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
Amygdala3.79 ± 1.07
Basal Forebrain3.64 ± 0.53
Basal Part of Pons3.45 ± 0.51
Cerebellar Cortex3.58 ± 0.68
Cerebellar Nuclei3.92 ± 0.46
Claustrum3.88 ± 0.68
Epithalamus3.34 ± 0.56
Frontal Lobe3.45 ± 0.69
Globus Pallidus3.97 ± 0.67
Hypothalamus3.19 ± 0.36
Insula3.39 ± 0.73
Limbic Lobe3.58 ± 0.64
Mesencephalon3.69 ± 0.74
Myelencephalon3.56 ± 0.67
Occipital Lobe3.69 ± 0.71
Parietal Lobe3.56 ± 0.63
Pontine Tegmentum3.51 ± 0.7
Striatum3.55 ± 0.69
Subthalamus3.56 ± 0.96
Temporal Lobe3.4 ± 0.72
Thalamus3.61 ± 0.64
White Matter4.07 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Matn1CBCerebellum1.94
2.25
Matn1CTXCerebral cortex2.53
1.92
Matn1HIPHippocampal region4.55
4.03
Matn1HPFHippocampal formation4.86
3.97
Matn1HYHypothalamus4.08
4.25
Matn1LSXLateral septal complex0.49
0.36
Matn1MBMidbrain1.71
2.64
Matn1MYMedulla4.7
5.59
Matn1OLFOlfactory bulb14.25
11.13
Matn1PPons7.97
11.61
Matn1PALPallidum1.68
1.35
Matn1RHPRetrohippocampal region5.61
3.86
Matn1sAMYStriatum-like amygdalar nuclei11.74
9.72
Matn1STRStriatum3.53
3.06
Matn1STRdStriatum dorsal region0.86
0.93
Matn1STRvStriatum ventral region9.77
7.54
Matn1THThalamus1.83
1.46
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