AutismKB 2.0

Annotation Detail for MUM1


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Basic Information Top
Gene Symbol:MUM1 ( EXPAND1,FLJ14868,FLJ22283,HSPC211,MGC131891,MGC163315,MUM-1 )
Gene Full Name: melanoma associated antigen (mutated) 1
Band: 19p13.3
Quick LinksEntrez ID:84939; OMIM: NA; Uniprot ID:MUM1_HUMAN; ENSEMBL ID: ENSG00000160953; HGNC ID: 29641
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
blastocyst6 / 6231996
fetus27 / 56401247
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult99 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor18 / 26384568
glioma8 / 10688374
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal163 / 336030748
ovarian tumor11 / 76682143
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer12 / 102680116
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone2 / 7165527
bone marrow1 / 4880120
brain63 / 110098957
cervix0 / 481710 
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus2 / 2020998
eye21 / 21105499
heart3 / 8962633
intestine8 / 23447234
kidney6 / 21177728
larynx1 / 2414541
liver5 / 20774324
lung15 / 33697444
lymph1 / 4427022
lymph node2 / 9161021
mammary gland3 / 15327119
mouth1 / 6705214
muscle3 / 10771527
nerve3 / 15768190
ovary11 / 102051107
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate16 / 18934584
salivary gland0 / 201550 
skin7 / 21057433
spleen4 / 5395274
stomach2 / 9661920
testis24 / 33044272
thymus3 / 8113136
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus18 / 23287877
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221290_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.75
Adipocyte11.25
AdrenalCortex16.05
Adrenalgland11.05
Amygdala25.4
Appendix13.95
AtrioventricularNode11.7
BDCA4+_DentriticCells12.9
Bonemarrow12.6
BronchialEpithelialCells9.85
CD105+_Endothelial15.25
CD14+_Monocytes13.5
CD19+_BCells(neg._sel.)15.25
CD33+_Myeloid16.4
CD34+36.45
CD4+_Tcells16.45
CD56+_NKCells17.85
CD71+_EarlyErythroid11.85
CD8+_Tcells18.15
CardiacMyocytes16.9
Caudatenucleus13.1
Cerebellum16.8
CerebellumPeduncles30.1
CiliaryGanglion12.5
CingulateCortex41.15
Colorectaladenocarcinoma11.5
DorsalRootGanglion11.25
FetalThyroid13.45
Fetalbrain37.95
Fetalliver10.3
Fetallung9.1
GlobusPallidus12.55
Heart16.55
Hypothalamus23.55
Kidney10.5
Leukemia_chronicMyelogenousK-56211.35
Leukemia_promyelocytic-HL-6011.1
Leukemialymphoblastic(MOLT-4)12.6
Liver18.65
Lung16.25
Lymphnode9.6
Lymphoma_burkitts(Daudi)16.3
Lymphoma_burkitts(Raji)18.35
MedullaOblongata35.6
OccipitalLobe15.5
OlfactoryBulb15.9
Ovary10.35
Pancreas10.55
PancreaticIslet13.4
ParietalLobe15.1
Pituitary17.2
Placenta10.55
Pons14.45
PrefrontalCortex27.95
Prostate19.7
Salivarygland10.25
SkeletalMuscle16.1
Skin11.15
SmoothMuscle13.25
Spinalcord14.15
SubthalamicNucleus28.3
SuperiorCervicalGanglion16.55
TemporalLobe15.75
Testis272.7
TestisGermCell137.95
TestisIntersitial192.3
TestisLeydigCell98.65
TestisSeminiferousTubule47.25
Thalamus16
Thymus8.8
Thyroid16.95
Tongue13.75
Tonsil12.3
Trachea9.3
TrigeminalGanglion16.65
Uterus13.95
UterusCorpus11.35
WholeBlood11.15
Wholebrain59.1
colon12.5
pineal_day16.4
pineal_night16.8
retina20.2
small_intestine10.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P208961
  • 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
Amygdala10.47 ± 0.31
Basal Forebrain10.58 ± 0.18
Basal Part of Pons10.64 ± 0.15
Cerebellar Cortex10.76 ± 0.25
Cerebellar Nuclei10.6 ± 0.27
Claustrum10.53 ± 0.27
Epithalamus10.58 ± 0.22
Frontal Lobe10.68 ± 0.22
Globus Pallidus10.3 ± 0.16
Hypothalamus10.86 ± 0.27
Insula10.81 ± 0.18
Limbic Lobe10.53 ± 0.3
Mesencephalon10.65 ± 0.21
Myelencephalon10.67 ± 0.26
Occipital Lobe10.46 ± 0.3
Parietal Lobe10.74 ± 0.24
Pontine Tegmentum10.66 ± 0.3
Striatum10.5 ± 0.27
Subthalamus10.9 ± 0.05
Temporal Lobe10.79 ± 0.21
Thalamus10.72 ± 0.19
White Matter10.59 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mum1CBCerebellum14.36
17.76
Mum1CTXCerebral cortex38.66
26.06
Mum1HIPHippocampal region28.31
27.83
Mum1HPFHippocampal formation27.51
24.19
Mum1HYHypothalamus24.09
18.21
Mum1LSXLateral septal complex24.38
16.43
Mum1MBMidbrain28.33
25.14
Mum1MYMedulla35.92
35.28
Mum1OLFOlfactory bulb27.53
21.71
Mum1PPons31.71
30.39
Mum1PALPallidum26.65
21.53
Mum1RHPRetrohippocampal region25.66
18.61
Mum1sAMYStriatum-like amygdalar nuclei26.46
19.18
Mum1STRStriatum22.5
15.83
Mum1STRdStriatum dorsal region19.35
14.05
Mum1STRvStriatum ventral region29.9
19.14
Mum1THThalamus39.68
31.36
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


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