AutismKB 2.0

Annotation Detail for FERMT2


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Basic Information Top
Gene Symbol:FERMT2 ( DKFZp686G11125,FLJ34213,FLJ44462,KIND2,MIG2,PLEKHC1,UNC112,UNC112B,mig-2 )
Gene Full Name: fermitin family member 2
Band: 14q22.1
Quick LinksEntrez ID:10979; OMIM: 607746; Uniprot ID:FERM2_HUMAN; ENSEMBL ID: ENSG00000073712; HGNC ID: 15767
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 body6 / 7076184
blastocyst15 / 62319240
fetus63 / 564012111
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult130 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal262 / 336030777
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone6 / 7165583
bone marrow4 / 4880181
brain33 / 110098929
cervix1 / 4817120
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye7 / 21105433
heart9 / 89626100
intestine7 / 23447229
kidney19 / 21177789
larynx5 / 24145207
liver9 / 20774343
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary4 / 10205139
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta54 / 280825192
prostate10 / 18934552
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach1 / 9661910
testis16 / 33044248
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209210_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.1
Adipocyte610.25
AdrenalCortex18.05
Adrenalgland12.8
Amygdala187.25
Appendix115.95
AtrioventricularNode30.1
BDCA4+_DentriticCells7.3
Bonemarrow6.25
BronchialEpithelialCells10.65
CD105+_Endothelial10.95
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid8.25
CD34+8.1
CD4+_Tcells8.4
CD56+_NKCells8.75
CD71+_EarlyErythroid5.95
CD8+_Tcells6.1
CardiacMyocytes214
Caudatenucleus63.5
Cerebellum10.15
CerebellumPeduncles17.75
CiliaryGanglion36.85
CingulateCortex15.9
Colorectaladenocarcinoma11
DorsalRootGanglion57.7
FetalThyroid141.95
Fetalbrain275.45
Fetalliver24.4
Fetallung607.65
GlobusPallidus10.65
Heart10.45
Hypothalamus121.3
Kidney14.95
Leukemia_chronicMyelogenousK-5625.7
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)11.5
Liver8.3
Lung19.1
Lymphnode45.25
Lymphoma_burkitts(Daudi)8.05
Lymphoma_burkitts(Raji)8.8
MedullaOblongata19.4
OccipitalLobe98
OlfactoryBulb205.7
Ovary86
Pancreas20.3
PancreaticIslet24.25
ParietalLobe25.7
Pituitary30.25
Placenta146.75
Pons12.25
PrefrontalCortex185.9
Prostate72.2
Salivarygland27.2
SkeletalMuscle20.9
Skin14.55
SmoothMuscle578.15
Spinalcord250.7
SubthalamicNucleus7.95
SuperiorCervicalGanglion11.9
TemporalLobe14.3
Testis6.75
TestisGermCell81.5
TestisIntersitial11.8
TestisLeydigCell14.6
TestisSeminiferousTubule13.25
Thalamus62.2
Thymus7.05
Thyroid178.3
Tongue15.2
Tonsil6.2
Trachea88.5
TrigeminalGanglion52.55
Uterus1062.55
UterusCorpus146.1
WholeBlood7
Wholebrain51.45
colon346.8
pineal_day161.26
pineal_night158.76
retina109.85
small_intestine99.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8639_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
Amygdala5.47 ± 0.45
Basal Forebrain5.49 ± 0.31
Basal Part of Pons4.99 ± 0.22
Cerebellar Cortex4.74 ± 0.24
Cerebellar Nuclei5.44 ± 0.39
Claustrum5.2 ± 0.48
Epithalamus5.12 ± 0.5
Frontal Lobe5.14 ± 0.44
Globus Pallidus6.54 ± 0.33
Hypothalamus5.36 ± 0.42
Insula5.13 ± 0.31
Limbic Lobe5.04 ± 0.66
Mesencephalon5.32 ± 0.57
Myelencephalon5.28 ± 0.45
Occipital Lobe5.12 ± 0.38
Parietal Lobe5.14 ± 0.58
Pontine Tegmentum5.33 ± 0.51
Striatum5.7 ± 0.31
Subthalamus5.43 ± 0.13
Temporal Lobe5.06 ± 0.46
Thalamus5.38 ± 0.35
White Matter6.82 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekhc1CBCerebellum11.69
16.92
Plekhc1CTXCerebral cortex30.99
22.31
Plekhc1HIPHippocampal region32.36
33.42
Plekhc1HPFHippocampal formation34.45
31.17
Plekhc1HYHypothalamus13
8.76
Plekhc1LSXLateral septal complex12.94
8.43
Plekhc1MBMidbrain17.14
14.15
Plekhc1MYMedulla8.87
11.64
Plekhc1OLFOlfactory bulb23.87
17.44
Plekhc1PPons14.03
15.76
Plekhc1PALPallidum10.11
7.96
Plekhc1RHPRetrohippocampal region37.23
28.19
Plekhc1sAMYStriatum-like amygdalar nuclei10.64
7.37
Plekhc1STRStriatum11.66
8.11
Plekhc1STRdStriatum dorsal region11.51
8.24
Plekhc1STRvStriatum ventral region12.73
8.16
Plekhc1THThalamus19.93
15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FERM2_HUMAN_361 19 361 379 TSTILGDITSIPELADYIK PRIDE
FERM2_HUMAN_442 15 442 456 LLIPVAEGMNEIWLR PRIDE
FERM2_HUMAN_557 19 557 575 FIQAWQSLPEFGITHFIAR PRIDE
PAp00025324 14 425 438 GCEVTPDVNISGQK 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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