AutismKB 2.0

Annotation Detail for FRMD1


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Basic Information Top
Gene Symbol:FRMD1 ( DKFZp434O0117,FLJ00181,FLJ22615,FLJ40260,bA164L23.1 )
Gene Full Name: FERM domain containing 1
Band: 6q27
Quick LinksEntrez ID:79981; OMIM: NA; Uniprot ID:FRMD1_HUMAN; ENSEMBL ID: ENSG00000153303; HGNC ID: 21240
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult2 / 19391211
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 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 
normal12 / 33603073
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 
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 
intestine1 / 2344724
kidney5 / 21177723
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 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis9 / 33044227
thymus12 / 81131147
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: 220819_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.45
Adipocyte8.7
AdrenalCortex9.4
Adrenalgland7.3
Amygdala9.3
Appendix8.75
AtrioventricularNode6.5
BDCA4+_DentriticCells8.3
Bonemarrow8.65
BronchialEpithelialCells8.7
CD105+_Endothelial8.7
CD14+_Monocytes9.4
CD19+_BCells(neg._sel.)9.5
CD33+_Myeloid10.7
CD34+11.2
CD4+_Tcells9.65
CD56+_NKCells9.45
CD71+_EarlyErythroid8.15
CD8+_Tcells8.6
CardiacMyocytes11.25
Caudatenucleus7.8
Cerebellum7.1
CerebellumPeduncles9.8
CiliaryGanglion6
CingulateCortex8.85
Colorectaladenocarcinoma8.75
DorsalRootGanglion6.6
FetalThyroid8.5
Fetalbrain8.8
Fetalliver7.8
Fetallung7.4
GlobusPallidus6.3
Heart12.45
Hypothalamus9.6
Kidney7
Leukemia_chronicMyelogenousK-5627.95
Leukemia_promyelocytic-HL-607.75
Leukemialymphoblastic(MOLT-4)7.05
Liver11.8
Lung10.05
Lymphnode7.65
Lymphoma_burkitts(Daudi)11.45
Lymphoma_burkitts(Raji)13.1
MedullaOblongata7.9
OccipitalLobe7.6
OlfactoryBulb6.9
Ovary6.2
Pancreas7.75
PancreaticIslet9.35
ParietalLobe9.15
Pituitary10.25
Placenta9.15
Pons8.25
PrefrontalCortex10.8
Prostate10.35
Salivarygland6.95
SkeletalMuscle10.65
Skin6.65
SmoothMuscle10
Spinalcord9.4
SubthalamicNucleus7.85
SuperiorCervicalGanglion9.75
TemporalLobe7.95
Testis7.6
TestisGermCell7.1
TestisIntersitial7.35
TestisLeydigCell8.6
TestisSeminiferousTubule7.5
Thalamus8.85
Thymus7
Thyroid11.05
Tongue8.9
Tonsil8.55
Trachea7.3
TrigeminalGanglion8.5
Uterus7.25
UterusCorpus7.75
WholeBlood9.6
Wholebrain7.5
colon8.8
pineal_day10.62
pineal_night10.44
retina10.475
small_intestine8.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P81717
  • 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
Amygdala3.3 ± 0.86
Basal Forebrain3.58 ± 0.57
Basal Part of Pons3.33 ± 0.51
Cerebellar Cortex3.09 ± 0.63
Cerebellar Nuclei3.78 ± 0.77
Claustrum3.48 ± 0.93
Epithalamus2.74 ± 0.53
Frontal Lobe3.31 ± 0.82
Globus Pallidus3.69 ± 0.8
Hypothalamus3.28 ± 0.56
Insula3.22 ± 0.68
Limbic Lobe3.45 ± 0.62
Mesencephalon3.39 ± 0.76
Myelencephalon3.42 ± 0.78
Occipital Lobe3.42 ± 0.73
Parietal Lobe3.33 ± 0.75
Pontine Tegmentum3.36 ± 0.82
Striatum3.72 ± 0.86
Subthalamus2.47 ± 0.55
Temporal Lobe3.19 ± 0.83
Thalamus3.48 ± 0.79
White Matter2.89 ± 0.3
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