AutismKB 2.0

Annotation Detail for TMBIM1


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Basic Information Top
Gene Symbol:TMBIM1 ( LFG3,MST100,MSTP100,RECS1 )
Gene Full Name: transmembrane BAX inhibitor motif containing 1
Band: 2q35
Quick LinksEntrez ID:64114; OMIM: 610364; Uniprot ID:TMBI1_HUMAN; ENSEMBL ID: ENSG00000135926; HGNC ID: 23410
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 body6 / 7076184
blastocyst3 / 6231948
fetus66 / 564012117
neonate29 / 31097932
infant1 / 2362042
juvenile11 / 55556197
adult434 / 1939121223
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma6 / 17475343
breast (mammary gland) tumor11 / 94178116
cervical tumor3 / 3436687
chondrosarcoma13 / 82823156
colorectal tumor37 / 114246323
esophageal tumor9 / 17290520
gastrointestinal tumor47 / 119369393
germ cell tumor9 / 26384534
glioma17 / 106883159
head and neck tumor69 / 136302506
kidney tumor12 / 68959174
leukemia15 / 95842156
liver tumor14 / 96359145
lung tumor16 / 103127155
lymphoma2 / 7175527
non-neoplasia32 / 97250329
normal953 / 3360307283
ovarian tumor18 / 76682234
pancreatic tumor33 / 104616315
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer23 / 102680223
retinoblastoma0 / 463560 
skin tumor16 / 124949128
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue7 / 13106534
adrenal gland20 / 33197602
ascites19 / 40015474
bladder24 / 29757806
blood41 / 123478332
bone9 / 71655125
bone marrow9 / 48801184
brain236 / 1100989214
cervix10 / 48171207
connective tissue66 / 149255442
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus12 / 20209593
eye25 / 211054118
heart18 / 89626200
intestine81 / 234472345
kidney99 / 211777467
larynx21 / 24145869
liver22 / 207743105
lung85 / 336974252
lymph1 / 4427022
lymph node4 / 9161043
mammary gland25 / 153271163
mouth61 / 67052909
muscle14 / 107715129
nerve5 / 15768317
ovary26 / 102051254
pancreas52 / 214812242
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland5 / 16585301
placenta134 / 280825477
prostate58 / 189345306
salivary gland3 / 20155148
skin67 / 210574318
spleen17 / 53952315
stomach32 / 96619331
testis7 / 33044221
thymus15 / 81131184
thyroid9 / 47473189
tonsil0 / 169990 
trachea32 / 52413610
umbilical cord1 / 1368073
uterus72 / 232878309
vascular34 / 51780656
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217730_at
Cell line Expression level Expression bar
721_B_lymphoblasts106.15
Adipocyte235.9
AdrenalCortex83.35
Adrenalgland74.55
Amygdala45.85
Appendix31.4
AtrioventricularNode48.5
BDCA4+_DentriticCells86.2
Bonemarrow57.5
BronchialEpithelialCells519.7
CD105+_Endothelial90.7
CD14+_Monocytes344.3
CD19+_BCells(neg._sel.)132.4
CD33+_Myeloid126.1
CD34+63.65
CD4+_Tcells90.3
CD56+_NKCells241.35
CD71+_EarlyErythroid391.3
CD8+_Tcells76.25
CardiacMyocytes99.75
Caudatenucleus53.6
Cerebellum29.6
CerebellumPeduncles47.8
CiliaryGanglion69.65
CingulateCortex42.75
Colorectaladenocarcinoma40.95
DorsalRootGanglion53.7
FetalThyroid100.05
Fetalbrain42.1
Fetalliver56.2
Fetallung187.8
GlobusPallidus31.35
Heart100.65
Hypothalamus80.8
Kidney74.95
Leukemia_chronicMyelogenousK-562119.85
Leukemia_promyelocytic-HL-6036.9
Leukemialymphoblastic(MOLT-4)24.95
Liver101.2
Lung305.65
Lymphnode94.25
Lymphoma_burkitts(Daudi)52.3
Lymphoma_burkitts(Raji)65.95
MedullaOblongata37.85
OccipitalLobe43.5
OlfactoryBulb112.2
Ovary53.3
Pancreas188.95
PancreaticIslet205.45
ParietalLobe52.5
Pituitary60.25
Placenta506.9
Pons42.65
PrefrontalCortex79.25
Prostate180.65
Salivarygland59.75
SkeletalMuscle50.85
Skin43.2
SmoothMuscle110.5
Spinalcord195.7
SubthalamicNucleus38.05
SuperiorCervicalGanglion34.75
TemporalLobe34.7
Testis34.7
TestisGermCell38.35
TestisIntersitial32.55
TestisLeydigCell40.55
TestisSeminiferousTubule36.55
Thalamus69.7
Thymus62.85
Thyroid412.9
Tongue139.45
Tonsil96.7
Trachea80
TrigeminalGanglion73.3
Uterus107.35
UterusCorpus115.35
WholeBlood231.55
Wholebrain46
colon74.5
pineal_day43.48
pineal_night38.44
retina186.55
small_intestine73.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P148521
  • 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
Amygdala5.67 ± 0.46
Basal Forebrain6.14 ± 0.29
Basal Part of Pons5.48 ± 0.86
Cerebellar Cortex5.35 ± 0.35
Cerebellar Nuclei6.35 ± 0.62
Claustrum5.75 ± 0.92
Epithalamus6.1 ± 0.7
Frontal Lobe5.61 ± 0.63
Globus Pallidus7.53 ± 0.4
Hypothalamus5.72 ± 0.52
Insula5.18 ± 0.48
Limbic Lobe5.37 ± 0.8
Mesencephalon6.01 ± 0.57
Myelencephalon5.9 ± 0.55
Occipital Lobe5.93 ± 0.75
Parietal Lobe5.81 ± 0.57
Pontine Tegmentum5.88 ± 0.62
Striatum6.42 ± 0.52
Subthalamus5.51 ± 0.66
Temporal Lobe5.47 ± 0.48
Thalamus6.16 ± 0.46
White Matter8.29 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tmbim1CBCerebellum100
100
Tmbim1CTXCerebral cortex100
100
Tmbim1HIPHippocampal region95.67
100
Tmbim1HPFHippocampal formation94.51
100
Tmbim1HYHypothalamus100
100
Tmbim1LSXLateral septal complex100
100
Tmbim1MBMidbrain100
100
Tmbim1MYMedulla100
100
Tmbim1OLFOlfactory bulb100
100
Tmbim1PPons100
100
Tmbim1PALPallidum100
100
Tmbim1RHPRetrohippocampal region91.72
89.28
Tmbim1sAMYStriatum-like amygdalar nuclei100
100
Tmbim1STRStriatum100
100
Tmbim1STRdStriatum dorsal region100
100
Tmbim1STRvStriatum ventral region100
100
Tmbim1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00493208 14 79 92 AVSDSFGPGEWDDR 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


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