AutismKB 2.0

Annotation Detail for COBRA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COBRA1 ( DKFZp586B0519,KIAA1182,NELF-B,NELFB )
Gene Full Name: cofactor of BRCA1
Band: 9q34
Quick LinksEntrez ID:25920; OMIM: 611180; Uniprot ID:NELFB_HUMAN; ENSEMBL ID: ENSG00000188986; HGNC ID:
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 body1 / 7076114
blastocyst8 / 62319128
fetus15 / 56401226
neonate0 / 310970 
infant2 / 2362084
juvenile5 / 5555689
adult133 / 193912168
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) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor16 / 119369134
germ cell tumor31 / 263845117
glioma21 / 106883196
head and neck tumor1 / 1363027
kidney tumor8 / 68959116
leukemia8 / 9584283
liver tumor5 / 9635951
lung tumor14 / 103127135
lymphoma7 / 7175597
non-neoplasia4 / 9725041
normal162 / 336030748
ovarian tumor4 / 7668252
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer17 / 102680165
retinoblastoma6 / 46356129
skin tumor17 / 124949136
soft tissue/muscle tissue tumor19 / 125191151
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 
ascites10 / 40015249
bladder1 / 2975733
blood15 / 123478121
bone5 / 7165569
bone marrow0 / 488010 
brain82 / 110098974
cervix6 / 48171124
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye16 / 21105475
heart0 / 896260 
intestine19 / 23447281
kidney9 / 21177742
larynx0 / 241450 
liver7 / 20774333
lung19 / 33697456
lymph3 / 4427067
lymph node5 / 9161054
mammary gland7 / 15327145
mouth0 / 670520 
muscle6 / 10771555
nerve2 / 15768126
ovary10 / 10205197
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate20 / 189345105
salivary gland1 / 2015549
skin19 / 21057490
spleen1 / 5395218
stomach6 / 9661962
testis18 / 33044254
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus22 / 23287894
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202757_at
Cell line Expression level Expression bar
721_B_lymphoblasts90.1
Adipocyte20.7
AdrenalCortex26.95
Adrenalgland20.4
Amygdala49.75
Appendix16.4
AtrioventricularNode14.9
BDCA4+_DentriticCells87
Bonemarrow17.55
BronchialEpithelialCells39.35
CD105+_Endothelial85.5
CD14+_Monocytes85.1
CD19+_BCells(neg._sel.)99.9
CD33+_Myeloid82.2
CD34+113
CD4+_Tcells55.85
CD56+_NKCells112.65
CD71+_EarlyErythroid32.2
CD8+_Tcells54.75
CardiacMyocytes44.6
Caudatenucleus23.5
Cerebellum20.7
CerebellumPeduncles28.65
CiliaryGanglion9.7
CingulateCortex35.2
Colorectaladenocarcinoma88.15
DorsalRootGanglion14.6
FetalThyroid28.5
Fetalbrain39.1
Fetalliver15.3
Fetallung20
GlobusPallidus18.75
Heart113.1
Hypothalamus39.05
Kidney14.25
Leukemia_chronicMyelogenousK-56241.8
Leukemia_promyelocytic-HL-6022.4
Leukemialymphoblastic(MOLT-4)30.1
Liver36.85
Lung143.35
Lymphnode18.9
Lymphoma_burkitts(Daudi)32.6
Lymphoma_burkitts(Raji)131.75
MedullaOblongata24.9
OccipitalLobe19.15
OlfactoryBulb17.2
Ovary12.05
Pancreas19.15
PancreaticIslet26
ParietalLobe20.15
Pituitary20.3
Placenta32.5
Pons18.45
PrefrontalCortex100.35
Prostate109.45
Salivarygland13.95
SkeletalMuscle17.35
Skin15.7
SmoothMuscle30.5
Spinalcord23.3
SubthalamicNucleus27.9
SuperiorCervicalGanglion16.6
TemporalLobe27.45
Testis35.6
TestisGermCell22.25
TestisIntersitial16.65
TestisLeydigCell17
TestisSeminiferousTubule18.8
Thalamus33.5
Thymus52.4
Thyroid101.3
Tongue24.65
Tonsil16.75
Trachea9.45
TrigeminalGanglion17.6
Uterus26.3
UterusCorpus13.55
WholeBlood45.4
Wholebrain90.05
colon46.7
pineal_day47.44
pineal_night36.12
retina39.95
small_intestine22.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9219_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
Amygdala6.98 ± 0.33
Basal Forebrain6.84 ± 0.29
Basal Part of Pons6.84 ± 0.35
Cerebellar Cortex6.46 ± 0.18
Cerebellar Nuclei6.6 ± 0.28
Claustrum7.28 ± 0.45
Epithalamus6.36 ± 0.26
Frontal Lobe6.71 ± 0.32
Globus Pallidus6.94 ± 0.21
Hypothalamus6.43 ± 0.23
Insula6.7 ± 0.21
Limbic Lobe6.92 ± 0.36
Mesencephalon6.8 ± 0.38
Myelencephalon6.79 ± 0.33
Occipital Lobe6.97 ± 0.38
Parietal Lobe6.82 ± 0.38
Pontine Tegmentum6.69 ± 0.34
Striatum6.8 ± 0.4
Subthalamus6.49 ± 0.14
Temporal Lobe6.74 ± 0.27
Thalamus6.85 ± 0.3
White Matter6.89 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
A730008L03RikCBCerebellum20.11
22.89
A730008L03RikCTXCerebral cortex36.68
24.49
A730008L03RikHIPHippocampal region23.35
22.15
A730008L03RikHPFHippocampal formation29.14
24.72
A730008L03RikHYHypothalamus24.05
18.18
A730008L03RikLSXLateral septal complex14.41
9.69
A730008L03RikMBMidbrain26.39
23.09
A730008L03RikMYMedulla33.3
34.73
A730008L03RikOLFOlfactory bulb36.66
27.26
A730008L03RikPPons29.96
29.79
A730008L03RikPALPallidum29.79
26.79
A730008L03RikRHPRetrohippocampal region37.5
27.44
A730008L03RiksAMYStriatum-like amygdalar nuclei34.15
24.43
A730008L03RikSTRStriatum12.79
10.08
A730008L03RikSTRdStriatum dorsal region8.79
7.67
A730008L03RikSTRvStriatum ventral region14.08
10.06
A730008L03RikTHThalamus36.4
30.08
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027126 8 231 238 NVHYCTLR Peptide Atlas

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