AutismKB 2.0

Annotation Detail for C11orf30


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Basic Information Top
Gene Symbol:C11orf30 ( EMSY,FLJ90741 )
Gene Full Name: chromosome 11 open reading frame 30
Band: 11q13.5
Quick LinksEntrez ID:56946; OMIM: 608574; Uniprot ID:EMSY_HUMAN; ENSEMBL ID: ENSG00000158636; 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 body3 / 7076142
blastocyst1 / 6231916
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult62 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal109 / 336030732
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow2 / 4880140
brain16 / 110098914
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye10 / 21105447
heart4 / 8962644
intestine6 / 23447225
kidney9 / 21177742
larynx0 / 241450 
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node6 / 9161065
mammary gland5 / 15327132
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta24 / 28082585
prostate4 / 18934521
salivary gland1 / 2015549
skin3 / 21057414
spleen4 / 5395274
stomach3 / 9661931
testis8 / 33044224
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219012_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10
Adipocyte8.2
AdrenalCortex12
Adrenalgland8.05
Amygdala8.2
Appendix11.45
AtrioventricularNode12.3
BDCA4+_DentriticCells9.55
Bonemarrow9.9
BronchialEpithelialCells7.95
CD105+_Endothelial8.9
CD14+_Monocytes10
CD19+_BCells(neg._sel.)9.6
CD33+_Myeloid10.45
CD34+12.15
CD4+_Tcells8.95
CD56+_NKCells10.1
CD71+_EarlyErythroid9.7
CD8+_Tcells7.9
CardiacMyocytes18.35
Caudatenucleus7.9
Cerebellum7.2
CerebellumPeduncles11.75
CiliaryGanglion12.75
CingulateCortex9.4
Colorectaladenocarcinoma8.55
DorsalRootGanglion9.15
FetalThyroid9
Fetalbrain8.25
Fetalliver7.65
Fetallung6.05
GlobusPallidus9.45
Heart16.55
Hypothalamus8.7
Kidney8.4
Leukemia_chronicMyelogenousK-5627.9
Leukemia_promyelocytic-HL-607.75
Leukemialymphoblastic(MOLT-4)6.85
Liver14.25
Lung9.35
Lymphnode6.85
Lymphoma_burkitts(Daudi)12.1
Lymphoma_burkitts(Raji)14.2
MedullaOblongata7.55
OccipitalLobe7.55
OlfactoryBulb6.8
Ovary6.95
Pancreas7.7
PancreaticIslet9.55
ParietalLobe9.85
Pituitary10
Placenta8.3
Pons9.55
PrefrontalCortex9.6
Prostate9.35
Salivarygland7.7
SkeletalMuscle15.4
Skin12.55
SmoothMuscle9.8
Spinalcord9.2
SubthalamicNucleus8.65
SuperiorCervicalGanglion14.95
TemporalLobe8.75
Testis7.1
TestisGermCell7
TestisIntersitial7.3
TestisLeydigCell9.7
TestisSeminiferousTubule7.45
Thalamus9.35
Thymus6.05
Thyroid9.95
Tongue11.55
Tonsil8.65
Trachea7
TrigeminalGanglion13.35
Uterus6.6
UterusCorpus9.25
WholeBlood9.1
Wholebrain6.3
colon8.3
pineal_day10.8
pineal_night10.28
retina10.25
small_intestine7.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P380839
  • 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
Amygdala4.53 ± 0.59
Basal Forebrain4.56 ± 0.49
Basal Part of Pons4.61 ± 0.8
Cerebellar Cortex5.06 ± 0.38
Cerebellar Nuclei4.76 ± 0.79
Claustrum4.33 ± 0.72
Epithalamus4.83 ± 0.57
Frontal Lobe4.44 ± 0.6
Globus Pallidus4.56 ± 0.55
Hypothalamus4.04 ± 0.71
Insula4.17 ± 0.44
Limbic Lobe4.55 ± 0.69
Mesencephalon4.66 ± 0.66
Myelencephalon4.46 ± 0.64
Occipital Lobe5.04 ± 0.62
Parietal Lobe4.54 ± 0.69
Pontine Tegmentum4.58 ± 0.62
Striatum4.3 ± 0.54
Subthalamus4.19 ± 0.64
Temporal Lobe4.41 ± 0.61
Thalamus4.51 ± 0.72
White Matter5.61 ± 0.02
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2210018M11RikCBCerebellum4.75
5.87
2210018M11RikCTXCerebral cortex42.56
32.14
2210018M11RikHIPHippocampal region33.33
45.98
2210018M11RikHPFHippocampal formation28.59
34.17
2210018M11RikHYHypothalamus0.88
0.84
2210018M11RikLSXLateral septal complex11.24
8.7
2210018M11RikMBMidbrain0.98
1.14
2210018M11RikMYMedulla0.51
0.83
2210018M11RikOLFOlfactory bulb24.39
21.42
2210018M11RikPPons1.01
1.61
2210018M11RikPALPallidum4.18
3.6
2210018M11RikRHPRetrohippocampal region19.88
16.92
2210018M11RiksAMYStriatum-like amygdalar nuclei8.22
6.03
2210018M11RikSTRStriatum14
9.79
2210018M11RikSTRdStriatum dorsal region13.61
9.77
2210018M11RikSTRvStriatum ventral region19.69
12.22
2210018M11RikTHThalamus14.32
13.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EMSY_HUMAN_1058 9 1058 1066 LQQAPNQPK PRIDE
EMSY_HUMAN_1144 8 1144 1151 TAVSDILK PRIDE
EMSY_HUMAN_1240 7 1240 1246 IQNVGQK PRIDE
EMSY_HUMAN_23 14 23 36 LELEAYAGVISALR PRIDE
EMSY_HUMAN_230 11 230 240 TITVPVSGSPK PRIDE
EMSY_HUMAN_37 7 37 43 AQGDLTK PRIDE
EMSY_HUMAN_388 15 388 402 SLVSAPTQILAQFPK PRIDE
EMSY_HUMAN_458 10 458 467 IITQQVQPSK PRIDE
EMSY_HUMAN_47 8 47 54 DLLGELSK PRIDE
EMSY_HUMAN_546 8 546 553 SLATLGGK PRIDE
EMSY_HUMAN_633 7 633 639 MIVTQPK PRIDE
EMSY_HUMAN_698 13 698 710 VAEAGNSSIQEGK PRIDE
EMSY_HUMAN_76 22 76 97 LTTIAHNMSGPNSSSEWSIEGR PRIDE
EMSY_HUMAN_797 20 797 816 QPTIDLSQMAVPIQMTQEKR PRIDE
EMSY_HUMAN_857 11 857 867 SQPQQPSQPQR PRIDE
EMSY_HUMAN_968 8 968 975 TLQCFQTK PRIDE
EMSY_HUMAN_991 10 991 1000 LPQMPQLSIR 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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