AutismKB 2.0

Annotation Detail for MCFD2


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Basic Information Top
Gene Symbol:MCFD2 ( DKFZp686G21263,F5F8D,LMAN1IP,SDNSF )
Gene Full Name: multiple coagulation factor deficiency 2
Band: 2p21
Quick LinksEntrez ID:90411; OMIM: 607788; Uniprot ID:MCFD2_HUMAN; ENSEMBL ID: ENSG00000180398; HGNC ID: 18451
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 body1 / 7076114
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult28 / 193912114
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 tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal26 / 33603077
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
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 
bone2 / 7165527
bone marrow0 / 488010 
brain9 / 11009898
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver6 / 20774328
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate9 / 18934547
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212246_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.15
Adipocyte22.45
AdrenalCortex10.4
Adrenalgland18
Amygdala6.75
Appendix7.65
AtrioventricularNode6
BDCA4+_DentriticCells25.5
Bonemarrow7
BronchialEpithelialCells57
CD105+_Endothelial19.7
CD14+_Monocytes7.8
CD19+_BCells(neg._sel.)9
CD33+_Myeloid21.45
CD34+23.15
CD4+_Tcells6.65
CD56+_NKCells14.9
CD71+_EarlyErythroid8.15
CD8+_Tcells5.95
CardiacMyocytes65.25
Caudatenucleus5.7
Cerebellum5.45
CerebellumPeduncles7.85
CiliaryGanglion5.25
CingulateCortex6.8
Colorectaladenocarcinoma10.9
DorsalRootGanglion5.8
FetalThyroid6.6
Fetalbrain6.25
Fetalliver8.75
Fetallung5.6
GlobusPallidus5.1
Heart9.25
Hypothalamus6.8
Kidney5.65
Leukemia_chronicMyelogenousK-56231.8
Leukemia_promyelocytic-HL-607.9
Leukemialymphoblastic(MOLT-4)5.9
Liver10.1
Lung7.2
Lymphnode5.35
Lymphoma_burkitts(Daudi)11.45
Lymphoma_burkitts(Raji)10.2
MedullaOblongata5.5
OccipitalLobe5.55
OlfactoryBulb5.4
Ovary8.35
Pancreas18.3
PancreaticIslet42
ParietalLobe6.85
Pituitary14.05
Placenta36.35
Pons6.2
PrefrontalCortex7.5
Prostate16.1
Salivarygland20.3
SkeletalMuscle8.45
Skin5.85
SmoothMuscle148.15
Spinalcord6.6
SubthalamicNucleus6.3
SuperiorCervicalGanglion8.35
TemporalLobe6.15
Testis6.7
TestisGermCell7.4
TestisIntersitial9.8
TestisLeydigCell7.95
TestisSeminiferousTubule7
Thalamus6.55
Thymus6.05
Thyroid10.1
Tongue7.3
Tonsil6.85
Trachea21.2
TrigeminalGanglion7.25
Uterus4.95
UterusCorpus6.5
WholeBlood6.7
Wholebrain5.85
colon6.65
pineal_day18.48
pineal_night31.32
retina9.175
small_intestine7.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P120270
  • 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
Amygdala9.72 ± 0.23
Basal Forebrain9.51 ± 0.17
Basal Part of Pons9.18 ± 0.26
Cerebellar Cortex9.26 ± 0.19
Cerebellar Nuclei9.31 ± 0.21
Claustrum9.31 ± 0.24
Epithalamus9.62 ± 0.15
Frontal Lobe9.54 ± 0.34
Globus Pallidus9.43 ± 0.35
Hypothalamus10.03 ± 0.25
Insula9.69 ± 0.3
Limbic Lobe9.68 ± 0.4
Mesencephalon9.61 ± 0.38
Myelencephalon9.48 ± 0.36
Occipital Lobe9.35 ± 0.34
Parietal Lobe9.53 ± 0.3
Pontine Tegmentum9.6 ± 0.33
Striatum9.47 ± 0.31
Subthalamus9.63 ± 0.33
Temporal Lobe9.62 ± 0.26
Thalamus9.34 ± 0.24
White Matter8.58 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mcfd2CBCerebellum15.62
47.92
Mcfd2CTXCerebral cortex72.42
70.7
Mcfd2HIPHippocampal region59.36
100
Mcfd2HPFHippocampal formation57.14
87.32
Mcfd2HYHypothalamus54.04
68.27
Mcfd2LSXLateral septal complex44.25
41.34
Mcfd2MBMidbrain31.21
36.62
Mcfd2MYMedulla12.65
20.12
Mcfd2OLFOlfactory bulb51.71
51.9
Mcfd2PPons18.61
29.24
Mcfd2PALPallidum40.64
48.42
Mcfd2RHPRetrohippocampal region52.99
60.23
Mcfd2sAMYStriatum-like amygdalar nuclei75.02
80.04
Mcfd2STRStriatum56.83
52.15
Mcfd2STRdStriatum dorsal region52.36
47.1
Mcfd2STRvStriatum ventral region67.19
57.08
Mcfd2THThalamus17.88
19.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064691 17 127 143 DDDKNNDGYIDYAEFAK 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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