AutismKB 2.0

Annotation Detail for NUMA1


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Basic Information Top
Gene Symbol:NUMA1 ( NUMA )
Gene Full Name: nuclear mitotic apparatus protein 1
Band: 11q13.4
Quick LinksEntrez ID:4926; OMIM: 164009; Uniprot ID:NUMA1_HUMAN; ENSEMBL ID: ENSG00000137497; HGNC ID: 8059
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 body16 / 70761226
blastocyst16 / 62319256
fetus56 / 56401299
neonate0 / 310970 
infant1 / 2362042
juvenile7 / 55556125
adult508 / 1939121261
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) tumor44 / 94178467
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor70 / 114246612
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor27 / 263845102
glioma20 / 106883187
head and neck tumor32 / 136302234
kidney tumor8 / 68959116
leukemia52 / 95842542
liver tumor18 / 96359186
lung tumor29 / 103127281
lymphoma6 / 7175583
non-neoplasia10 / 97250102
normal448 / 3360307133
ovarian tumor18 / 76682234
pancreatic tumor28 / 104616267
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer22 / 102680214
retinoblastoma7 / 46356151
skin tumor22 / 124949176
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor23 / 90257254
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites1 / 4001524
bladder1 / 2975733
blood31 / 123478251
bone9 / 71655125
bone marrow7 / 48801143
brain128 / 1100989116
cervix5 / 48171103
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue38 / 215722176
esophagus2 / 2020998
eye43 / 211054203
heart9 / 89626100
intestine91 / 234472388
kidney15 / 21177770
larynx22 / 24145911
liver23 / 207743110
lung59 / 336974175
lymph5 / 44270112
lymph node29 / 91610316
mammary gland60 / 153271391
mouth4 / 6705259
muscle9 / 10771583
nerve8 / 15768507
ovary29 / 102051284
pancreas37 / 214812172
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta28 / 28082599
prostate89 / 189345470
salivary gland0 / 201550 
skin34 / 210574161
spleen4 / 5395274
stomach13 / 96619134
testis22 / 33044266
thymus3 / 8113136
thyroid14 / 47473294
tonsil3 / 16999176
trachea1 / 5241319
umbilical cord0 / 136800 
uterus41 / 232878176
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200747_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts209.25
Adipocyte55.5
AdrenalCortex156.8
Adrenalgland165.5
Amygdala80.8
Appendix52.05
AtrioventricularNode41.8
BDCA4+_DentriticCells302.6
Bonemarrow95.9
BronchialEpithelialCells23.75
CD105+_Endothelial122.05
CD14+_Monocytes149.85
CD19+_BCells(neg._sel.)218.95
CD33+_Myeloid145.05
CD34+294.7
CD4+_Tcells407.15
CD56+_NKCells275.55
CD71+_EarlyErythroid275.2
CD8+_Tcells358.15
CardiacMyocytes46.55
Caudatenucleus125.4
Cerebellum117.75
CerebellumPeduncles134.5
CiliaryGanglion26
CingulateCortex80.25
Colorectaladenocarcinoma217.45
DorsalRootGanglion61.75
FetalThyroid187.45
Fetalbrain117.35
Fetalliver79.8
Fetallung115.25
GlobusPallidus56.35
Heart120.7
Hypothalamus135.7
Kidney104.45
Leukemia_chronicMyelogenousK-56277.4
Leukemia_promyelocytic-HL-6050.6
Leukemialymphoblastic(MOLT-4)183.45
Liver113.45
Lung346.7
Lymphnode164.6
Lymphoma_burkitts(Daudi)153.4
Lymphoma_burkitts(Raji)188.45
MedullaOblongata73.35
OccipitalLobe109.05
OlfactoryBulb124
Ovary59.05
Pancreas81.7
PancreaticIslet106.15
ParietalLobe175.45
Pituitary153.35
Placenta169.35
Pons56.95
PrefrontalCortex183.6
Prostate592.35
Salivarygland63
SkeletalMuscle119.4
Skin41
SmoothMuscle62.8
Spinalcord160.55
SubthalamicNucleus47.55
SuperiorCervicalGanglion29.35
TemporalLobe83.85
Testis97.75
TestisGermCell140.1
TestisIntersitial71.2
TestisLeydigCell65.5
TestisSeminiferousTubule95.75
Thalamus96.15
Thymus249.55
Thyroid392.65
Tongue130.25
Tonsil118.25
Trachea92.25
TrigeminalGanglion66.4
Uterus266.65
UterusCorpus151.2
WholeBlood81.45
Wholebrain98.65
colon76.95
pineal_day444.94
pineal_night397.04
retina330.275
small_intestine38.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11341_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
Amygdala7.56 ± 0.34
Basal Forebrain7.76 ± 0.3
Basal Part of Pons7.49 ± 0.37
Cerebellar Cortex7.36 ± 0.11
Cerebellar Nuclei7.67 ± 0.18
Claustrum7.78 ± 0.28
Epithalamus7.33 ± 0.32
Frontal Lobe7.24 ± 0.34
Globus Pallidus8.32 ± 0.16
Hypothalamus7.33 ± 0.18
Insula7.28 ± 0.22
Limbic Lobe7.34 ± 0.43
Mesencephalon7.58 ± 0.38
Myelencephalon7.48 ± 0.37
Occipital Lobe7.73 ± 0.34
Parietal Lobe7.44 ± 0.37
Pontine Tegmentum7.42 ± 0.39
Striatum7.69 ± 0.37
Subthalamus7.24 ± 0.04
Temporal Lobe7.39 ± 0.3
Thalamus7.49 ± 0.28
White Matter9.06 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Numa1CBCerebellum43.65
61.75
Numa1CTXCerebral cortex59.34
32.41
Numa1HIPHippocampal region37.77
47.34
Numa1HPFHippocampal formation42.5
39.85
Numa1HYHypothalamus35.81
17.48
Numa1LSXLateral septal complex29.37
10.28
Numa1MBMidbrain26.4
18.7
Numa1MYMedulla45.48
34.71
Numa1OLFOlfactory bulb51.19
35.12
Numa1PPons36.01
26.98
Numa1PALPallidum40.87
23.8
Numa1RHPRetrohippocampal region47.95
32.05
Numa1sAMYStriatum-like amygdalar nuclei41.23
21.3
Numa1STRStriatum36.26
19.16
Numa1STRdStriatum dorsal region32.97
17.61
Numa1STRvStriatum ventral region47.09
25.94
Numa1THThalamus21.27
13.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NUMA1_HUMAN_1240 14 1240 1253 QVLEKEGESKELKR PRIDE
NUMA1_HUMAN_1262 7 1262 1268 SQKLEER PRIDE
NUMA1_HUMAN_1414 8 1414 1421 QKVAEQER PRIDE
NUMA1_HUMAN_154 23 154 176 APVPSTCSSTFPEELSPPSHQAK PRIDE
NUMA1_HUMAN_1709 32 1709 1740 SREPQAKPQLDLSIDSLDLSCEEGTPLSITSK PRIDE
NUMA1_HUMAN_1744 19 1744 1762 TQPDGTSVPGEPASPISQR PRIDE
NUMA1_HUMAN_1763 19 1763 1781 LPPKVESLESLYFTPIPAR PRIDE
NUMA1_HUMAN_1822 18 1822 1839 KLDVEEPDSANSSFYSTR PRIDE
NUMA1_HUMAN_1860 22 1860 1881 LGSPDYGNSALLSLPGYRPTTR PRIDE
NUMA1_HUMAN_187 31 187 217 VASSSSGNNFLSGSPASPMGDILQTPQFQMR PRIDE
NUMA1_HUMAN_1936 22 1936 1957 TCYPLESRPSLSLGTITDEEMK PRIDE
NUMA1_HUMAN_1968 17 1968 1984 ASMQPIQIAEGTGITTR PRIDE
NUMA1_HUMAN_1990 15 1990 2004 VSLEPHQGPGTPESK PRIDE
NUMA1_HUMAN_725 10 725 734 AADALEEQQR PRIDE
NUMA1_HUMAN_870 14 870 883 QQNELAELHANLAR PRIDE
NUMA1_HUMAN_973 11 973 983 EAEQMGNELER PRIDE
NUMA1_HUMAN_986 14 986 999 AALMESQGQQQEER PRIDE
PAp00000641 23 154 176 APVPSTCSSTFPEELSPPSHQAK 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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