AutismKB 2.0

Annotation Detail for COL7A1


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Basic Information Top
Gene Symbol:COL7A1 ( EBD1,EBDCT,EBR1 )
Gene Full Name: collagen, type VII, alpha 1
Band: 3p21.31
Quick LinksEntrez ID:1294; OMIM: 120120; Uniprot ID:CO7A1_HUMAN; ENSEMBL ID: ENSG00000114270; HGNC ID: 2214
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 body2 / 7076128
blastocyst1 / 6231916
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult65 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma9 / 17475515
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma4 / 10688337
head and neck tumor15 / 136302110
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal45 / 336030713
ovarian tumor4 / 7668252
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder7 / 29757235
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus2 / 2020998
eye12 / 21105456
heart3 / 8962633
intestine4 / 23447217
kidney8 / 21177737
larynx9 / 24145372
liver1 / 2077434
lung14 / 33697441
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary6 / 10205158
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217312_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.6
Adipocyte6.4
AdrenalCortex6.7
Adrenalgland5.5
Amygdala6.85
Appendix6.5
AtrioventricularNode4.9
BDCA4+_DentriticCells7.1
Bonemarrow6.75
BronchialEpithelialCells27.2
CD105+_Endothelial5.45
CD14+_Monocytes6.95
CD19+_BCells(neg._sel.)7
CD33+_Myeloid7.75
CD34+7.6
CD4+_Tcells6.8
CD56+_NKCells7.1
CD71+_EarlyErythroid6
CD8+_Tcells5.9
CardiacMyocytes8
Caudatenucleus6.5
Cerebellum5.25
CerebellumPeduncles7.35
CiliaryGanglion4.85
CingulateCortex6.6
Colorectaladenocarcinoma8.55
DorsalRootGanglion4.95
FetalThyroid6.35
Fetalbrain6.25
Fetalliver5.75
Fetallung5.85
GlobusPallidus5
Heart8.35
Hypothalamus6.75
Kidney5.3
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-605.75
Leukemialymphoblastic(MOLT-4)5.25
Liver8.85
Lung7.3
Lymphnode5.95
Lymphoma_burkitts(Daudi)8.25
Lymphoma_burkitts(Raji)11.05
MedullaOblongata5.95
OccipitalLobe5.85
OlfactoryBulb5.1
Ovary4.35
Pancreas5.65
PancreaticIslet6.95
ParietalLobe6.8
Pituitary7.6
Placenta6.95
Pons6.15
PrefrontalCortex7.75
Prostate9.25
Salivarygland5.15
SkeletalMuscle7.3
Skin5.75
SmoothMuscle7.45
Spinalcord6.8
SubthalamicNucleus5.85
SuperiorCervicalGanglion8
TemporalLobe5.9
Testis6.35
TestisGermCell5.3
TestisIntersitial5.4
TestisLeydigCell6.65
TestisSeminiferousTubule5.6
Thalamus6.55
Thymus6.1
Thyroid8.3
Tongue7.3
Tonsil6.75
Trachea6.35
TrigeminalGanglion6.5
Uterus5.8
UterusCorpus5.8
WholeBlood7.2
Wholebrain5.6
colon6.55
pineal_day8.76
pineal_night8.7
retina7.375
small_intestine5.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P144071
  • 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
Amygdala3.91 ± 0.73
Basal Forebrain4.27 ± 0.72
Basal Part of Pons3.72 ± 0.54
Cerebellar Cortex4.82 ± 0.53
Cerebellar Nuclei3.9 ± 0.57
Claustrum3.43 ± 0.94
Epithalamus3.98 ± 0.76
Frontal Lobe4.02 ± 0.74
Globus Pallidus3.72 ± 0.43
Hypothalamus5.24 ± 0.82
Insula4.02 ± 0.8
Limbic Lobe3.74 ± 0.67
Mesencephalon4.35 ± 0.82
Myelencephalon4.13 ± 0.78
Occipital Lobe4.22 ± 0.77
Parietal Lobe4.26 ± 0.72
Pontine Tegmentum4.02 ± 0.69
Striatum3.73 ± 0.71
Subthalamus4.2 ± 0.13
Temporal Lobe4.11 ± 0.6
Thalamus3.96 ± 0.61
White Matter4.61 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Col7a1CBCerebellum13.75
16.39
Col7a1CTXCerebral cortex15.27
11.38
Col7a1HIPHippocampal region15.68
15.52
Col7a1HPFHippocampal formation18.79
17.35
Col7a1HYHypothalamus1.56
1.32
Col7a1LSXLateral septal complex1.95
1.43
Col7a1MBMidbrain1.32
1.69
Col7a1MYMedulla5.44
5.17
Col7a1OLFOlfactory bulb21.04
15.74
Col7a1PPons3.02
3.19
Col7a1PALPallidum3.8
3.03
Col7a1RHPRetrohippocampal region23.76
19.6
Col7a1sAMYStriatum-like amygdalar nuclei4.55
2.77
Col7a1STRStriatum7.82
5.5
Col7a1STRdStriatum dorsal region9.26
6.72
Col7a1STRvStriatum ventral region6.34
4.07
Col7a1THThalamus1.75
1.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CO7A1_HUMAN_1155 16 1155 1170 QHVPGVMVLLVDEPLR 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


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