AutismKB 2.0

Annotation Detail for FERMT1


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Basic Information Top
Gene Symbol:FERMT1 ( C20orf42,DTGCU2,FLJ20116,FLJ23423,KIND1,UNC112A,URP1 )
Gene Full Name: fermitin family member 1
Band: 20p12.3
Quick LinksEntrez ID:55612; OMIM: 607900; Uniprot ID:FERM1_HUMAN; ENSEMBL ID: ENSG00000101311; HGNC ID: 15889
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 body10 / 70761141
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult48 / 193912124
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 tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor20 / 114246175
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma7 / 10688365
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal44 / 336030713
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor1 / 1251917
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 
bladder4 / 29757134
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain13 / 110098911
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye1 / 2110544
heart2 / 8962622
intestine36 / 234472153
kidney3 / 21177714
larynx0 / 241450 
liver6 / 20774328
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta3 / 28082510
prostate6 / 18934531
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach7 / 9661972
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218796_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte4.15
AdrenalCortex4.7
Adrenalgland7.3
Amygdala4.45
Appendix4.25
AtrioventricularNode3.2
BDCA4+_DentriticCells4.5
Bonemarrow4.25
BronchialEpithelialCells208
CD105+_Endothelial4.25
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.4
CD34+7.75
CD4+_Tcells4.55
CD56+_NKCells4.9
CD71+_EarlyErythroid3.9
CD8+_Tcells4
CardiacMyocytes5.35
Caudatenucleus3.8
Cerebellum3.45
CerebellumPeduncles4.75
CiliaryGanglion3
CingulateCortex4.3
Colorectaladenocarcinoma25.65
DorsalRootGanglion3.2
FetalThyroid4.1
Fetalbrain4.25
Fetalliver3.7
Fetallung3.5
GlobusPallidus3.05
Heart5.5
Hypothalamus4.55
Kidney3.55
Leukemia_chronicMyelogenousK-5623.85
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.4
Liver5.65
Lung4.6
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.85
MedullaOblongata3.9
OccipitalLobe3.8
OlfactoryBulb3.35
Ovary2.9
Pancreas9.4
PancreaticIslet4.5
ParietalLobe4.4
Pituitary4.9
Placenta4.45
Pons4
PrefrontalCortex5.25
Prostate7.5
Salivarygland3.3
SkeletalMuscle4.8
Skin4.25
SmoothMuscle4.8
Spinalcord4.9
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.8
TemporalLobe3.85
Testis6
TestisGermCell3.55
TestisIntersitial4
TestisLeydigCell4.2
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.4
Thyroid5.6
Tongue4.5
Tonsil4.1
Trachea3.55
TrigeminalGanglion4.15
Uterus3.45
UterusCorpus3.75
WholeBlood4.6
Wholebrain3.55
colon128.3
pineal_day5.28
pineal_night5.12
retina5.05
small_intestine39.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P365506
  • 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
Amygdala4.19 ± 0.54
Basal Forebrain4.84 ± 0.46
Basal Part of Pons4.58 ± 0.43
Cerebellar Cortex4.07 ± 0.32
Cerebellar Nuclei5.28 ± 0.44
Claustrum4.25 ± 0.7
Epithalamus4.3 ± 0.41
Frontal Lobe4.52 ± 0.57
Globus Pallidus6.21 ± 0.41
Hypothalamus3.88 ± 0.48
Insula4.34 ± 0.41
Limbic Lobe4.6 ± 0.58
Mesencephalon4.91 ± 0.6
Myelencephalon4.7 ± 0.6
Occipital Lobe4.66 ± 0.52
Parietal Lobe4.52 ± 0.61
Pontine Tegmentum4.52 ± 0.66
Striatum5.42 ± 0.54
Subthalamus4.9 ± 0.37
Temporal Lobe4.52 ± 0.48
Thalamus4.79 ± 0.43
White Matter6.07 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5830467P10RikCBCerebellum10.19
13.11
5830467P10RikCTXCerebral cortex29.42
20.28
5830467P10RikHIPHippocampal region17.8
17.56
5830467P10RikHPFHippocampal formation21.99
19.04
5830467P10RikHYHypothalamus13.07
8.99
5830467P10RikLSXLateral septal complex12.73
8.11
5830467P10RikMBMidbrain7.31
9
5830467P10RikMYMedulla5.86
7.52
5830467P10RikOLFOlfactory bulb14.3
10.54
5830467P10RikPPons11.87
14.92
5830467P10RikPALPallidum12.13
11.5
5830467P10RikRHPRetrohippocampal region30.45
22.2
5830467P10RiksAMYStriatum-like amygdalar nuclei33.19
22.06
5830467P10RikSTRStriatum14.2
10.12
5830467P10RikSTRdStriatum dorsal region12.8
9.77
5830467P10RikSTRvStriatum ventral region10.09
6.72
5830467P10RikTHThalamus17.61
15.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00131055 34 325 358 LSLSAETQDFAGESEVDEIEAALSNLEVTLEGGK 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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