AutismKB 2.0

Annotation Detail for COL12A1


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Basic Information Top
Gene Symbol:COL12A1 ( BA209D8.1,COL12A1L,DJ234P15.1 )
Gene Full Name: collagen, type XII, alpha 1
Band: 6q13-q14.1
Quick LinksEntrez ID:1303; OMIM: 120320; Uniprot ID:COCA1_HUMAN; ENSEMBL ID: ENSG00000111799; HGNC ID: 2188
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 body5 / 7076170
blastocyst2 / 6231932
fetus59 / 564012104
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult116 / 193912159
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma23 / 82823277
colorectal tumor6 / 11424652
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor7 / 13630251
kidney tumor6 / 6895987
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia10 / 97250102
normal182 / 336030754
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood0 / 1234780 
bone32 / 71655446
bone marrow15 / 48801307
brain10 / 11009899
cervix1 / 4817120
connective tissue22 / 149255147
ear8 / 16212493
embryonic tissue17 / 21572278
esophagus4 / 20209197
eye20 / 21105494
heart10 / 89626111
intestine15 / 23447263
kidney11 / 21177751
larynx2 / 2414582
liver3 / 20774314
lung16 / 33697447
lymph0 / 442700 
lymph node0 / 916100 
mammary gland18 / 153271117
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate3 / 18934515
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach7 / 9661972
testis0 / 3304420 
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus25 / 232878107
vascular5 / 5178096
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P291814
  • 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
Amygdala3.56 ± 0.65
Basal Forebrain3.53 ± 0.86
Basal Part of Pons2.91 ± 0.44
Cerebellar Cortex3.3 ± 0.64
Cerebellar Nuclei3.6 ± 0.39
Claustrum3.71 ± 0.76
Epithalamus3.22 ± 0.9
Frontal Lobe3.91 ± 0.65
Globus Pallidus4.1 ± 0.81
Hypothalamus3.55 ± 0.86
Insula3.65 ± 0.43
Limbic Lobe3.85 ± 0.88
Mesencephalon4.39 ± 0.9
Myelencephalon3.85 ± 0.81
Occipital Lobe3.82 ± 0.89
Parietal Lobe3.99 ± 0.7
Pontine Tegmentum3.97 ± 0.74
Striatum2.56 ± 1.23
Subthalamus3.84 ± 0.21
Temporal Lobe4.11 ± 0.44
Thalamus3.75 ± 0.58
White Matter2.76 ± 1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col12a1CBCerebellum10.13
11.69
Col12a1CTXCerebral cortex20.07
14.41
Col12a1HIPHippocampal region8.92
10.57
Col12a1HPFHippocampal formation8.25
8.47
Col12a1HYHypothalamus3.26
2.57
Col12a1LSXLateral septal complex2.21
1.84
Col12a1MBMidbrain3.4
3.62
Col12a1MYMedulla10.2
10.25
Col12a1OLFOlfactory bulb10.27
8.63
Col12a1PPons8.13
7.71
Col12a1PALPallidum1.82
1.53
Col12a1RHPRetrohippocampal region7.34
5.9
Col12a1sAMYStriatum-like amygdalar nuclei4.94
3.36
Col12a1STRStriatum3.12
2.4
Col12a1STRdStriatum dorsal region2.59
2.01
Col12a1STRvStriatum ventral region3.23
2.31
Col12a1THThalamus8.33
7.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
COCA1_HUMAN_1273 14 1273 1286 GGNTLTGMALNFIR PRIDE
COCA1_HUMAN_2846 43 2846 2888 DGAMGPRGPPGPPGSPGSPGVTGPSGKPGKPGDHGRPGPSGLK 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