AutismKB 2.0

Annotation Detail for MKRN3


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Basic Information Top
Gene Symbol:MKRN3 ( D15S9,MGC88288,RNF63,ZFP127,ZNF127 )
Gene Full Name: makorin ring finger protein 3
Band: 15q11.2
Quick LinksEntrez ID:7681; OMIM: 603856; Uniprot ID:MKRN3_HUMAN; ENSEMBL ID: ENSG00000179455; HGNC ID: 7114
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 body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult1 / 19391210 
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal12 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal1 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain16 / 110098914
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver3 / 20774314
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206585_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.15
Adipocyte8.85
AdrenalCortex10.3
Adrenalgland8.8
Amygdala9.2
Appendix10.65
AtrioventricularNode9.05
BDCA4+_DentriticCells8.5
Bonemarrow9.55
BronchialEpithelialCells8.25
CD105+_Endothelial8.85
CD14+_Monocytes9.3
CD19+_BCells(neg._sel.)9.9
CD33+_Myeloid10.7
CD34+10.65
CD4+_Tcells8.9
CD56+_NKCells9.9
CD71+_EarlyErythroid8.75
CD8+_Tcells7.75
CardiacMyocytes19.25
Caudatenucleus8.65
Cerebellum7.9
CerebellumPeduncles10.65
CiliaryGanglion8.6
CingulateCortex9.85
Colorectaladenocarcinoma9.1
DorsalRootGanglion11.5
FetalThyroid9.05
Fetalbrain8.35
Fetalliver8
Fetallung6.35
GlobusPallidus8.45
Heart14.4
Hypothalamus10.55
Kidney9.1
Leukemia_chronicMyelogenousK-5628.1
Leukemia_promyelocytic-HL-607.8
Leukemialymphoblastic(MOLT-4)6.75
Liver14.3
Lung9.75
Lymphnode7.15
Lymphoma_burkitts(Daudi)12.15
Lymphoma_burkitts(Raji)14.7
MedullaOblongata8.1
OccipitalLobe7.95
OlfactoryBulb6.8
Ovary7.85
Pancreas7.45
PancreaticIslet9.35
ParietalLobe10.3
Pituitary10.9
Placenta8.25
Pons8.9
PrefrontalCortex10.8
Prostate10.15
Salivarygland7.85
SkeletalMuscle11.9
Skin10.3
SmoothMuscle10.1
Spinalcord9.6
SubthalamicNucleus9
SuperiorCervicalGanglion14.7
TemporalLobe8.4
Testis7.6
TestisGermCell6.8
TestisIntersitial8.2
TestisLeydigCell9.7
TestisSeminiferousTubule7.85
Thalamus9.6
Thymus6.9
Thyroid10.35
Tongue10.25
Tonsil8.85
Trachea7.45
TrigeminalGanglion14.15
Uterus7
UterusCorpus8.8
WholeBlood9.4
Wholebrain7.5
colon8.75
pineal_day11.02
pineal_night10.84
retina10.975
small_intestine8.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6420_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
Amygdala2.43 ± 1.11
Basal Forebrain2.17 ± 0.6
Basal Part of Pons1.97 ± 0.83
Cerebellar Cortex1.57 ± 0.48
Cerebellar Nuclei2.13 ± 0.78
Claustrum2.41 ± 0.68
Epithalamus1.64 ± 0.68
Frontal Lobe1.76 ± 0.78
Globus Pallidus2.99 ± 0.64
Hypothalamus1.84 ± 0.81
Insula2.01 ± 1.01
Limbic Lobe1.85 ± 0.79
Mesencephalon2.07 ± 0.8
Myelencephalon1.95 ± 0.78
Occipital Lobe1.86 ± 0.76
Parietal Lobe1.82 ± 0.74
Pontine Tegmentum1.98 ± 0.76
Striatum2.4 ± 0.87
Subthalamus2.45 ± 1.2
Temporal Lobe1.76 ± 0.8
Thalamus1.94 ± 0.64
White Matter4.48 ± 0.13
Mouse Brain ISH
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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