AutismKB 2.0

Annotation Detail for SMEK2


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Basic Information Top
Gene Symbol:SMEK2 ( FLFL2,FLJ31474,KIAA1387,PP4R3B,PSY2,smk1 )
Gene Full Name: SMEK homolog 2, suppressor of mek1 (Dictyostelium)
Band: 2p16.1
Quick LinksEntrez ID:57223; OMIM: 610352; Uniprot ID:P4R3B_HUMAN; ENSEMBL ID: ENSG00000138041; 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 body5 / 7076170
blastocyst3 / 6231948
fetus48 / 56401285
neonate2 / 3109764
infant2 / 2362084
juvenile3 / 5555653
adult191 / 193912198
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor5 / 34366145
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor43 / 263845162
glioma6 / 10688356
head and neck tumor14 / 136302102
kidney tumor8 / 68959116
leukemia9 / 9584293
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma6 / 7175583
non-neoplasia10 / 97250102
normal273 / 336030781
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer5 / 10268048
retinoblastoma7 / 46356151
skin tumor4 / 12494932
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites3 / 4001574
bladder5 / 29757168
blood10 / 12347880
bone4 / 7165555
bone marrow2 / 4880140
brain95 / 110098986
cervix9 / 48171186
connective tissue4 / 14925526
ear3 / 16212185
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye21 / 21105499
heart1 / 8962611
intestine6 / 23447225
kidney17 / 21177780
larynx1 / 2414541
liver13 / 20774362
lung16 / 33697447
lymph2 / 4427045
lymph node16 / 91610174
mammary gland13 / 15327184
mouth3 / 6705244
muscle14 / 107715129
nerve0 / 157680 
ovary5 / 10205148
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta42 / 280825149
prostate10 / 18934552
salivary gland1 / 2015549
skin7 / 21057433
spleen2 / 5395237
stomach3 / 9661931
testis55 / 330442166
thymus14 / 81131172
thyroid11 / 47473231
tonsil0 / 169990 
trachea15 / 52413286
umbilical cord0 / 136800 
uterus22 / 23287894
vascular7 / 51780135
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10323_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
Amygdala7.88 ± 0.23
Basal Forebrain7.82 ± 0.11
Basal Part of Pons7.26 ± 0.18
Cerebellar Cortex7.86 ± 0.21
Cerebellar Nuclei7.32 ± 0.26
Claustrum7.9 ± 0.25
Epithalamus8.11 ± 0.36
Frontal Lobe7.49 ± 0.28
Globus Pallidus7.84 ± 0.23
Hypothalamus7.5 ± 0.22
Insula7.58 ± 0.26
Limbic Lobe7.71 ± 0.35
Mesencephalon7.64 ± 0.24
Myelencephalon7.63 ± 0.31
Occipital Lobe7.88 ± 0.27
Parietal Lobe7.66 ± 0.29
Pontine Tegmentum7.69 ± 0.28
Striatum7.7 ± 0.34
Subthalamus7.33 ± 0.34
Temporal Lobe7.59 ± 0.26
Thalamus7.53 ± 0.2
White Matter8.31 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AW011752CBCerebellum14.2
19.96
AW011752CTXCerebral cortex29
23.16
AW011752HIPHippocampal region28.84
36
AW011752HPFHippocampal formation32.9
35.81
AW011752HYHypothalamus2.02
1.99
AW011752LSXLateral septal complex0.1
0
AW011752MBMidbrain4.25
4.79
AW011752MYMedulla9.28
10.35
AW011752OLFOlfactory bulb17.42
14.76
AW011752PPons3.64
4.24
AW011752PALPallidum0.83
0.91
AW011752RHPRetrohippocampal region43.92
38.95
AW011752sAMYStriatum-like amygdalar nuclei5
3.6
AW011752STRStriatum4.7
3.64
AW011752STRdStriatum dorsal region3.82
2.95
AW011752STRvStriatum ventral region8.54
6.4
AW011752THThalamus5.73
5.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00524452 18 104 121 DPSVEVTQDLIDESEEER 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