AutismKB 2.0

Annotation Detail for DYSF


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Basic Information Top
Gene Symbol:DYSF ( FER1L1,FLJ00175,FLJ90168,LGMD2B )
Gene Full Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Band: 2p13.2
Quick LinksEntrez ID:8291; OMIM: 603009; Uniprot ID:DYSF_HUMAN; ENSEMBL ID: ENSG00000135636; HGNC ID: 3097
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 
blastocyst1 / 6231916
fetus38 / 56401267
neonate22 / 31097707
infant0 / 236200 
juvenile1 / 5555617
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor9 / 13630266
kidney tumor1 / 6895914
leukemia25 / 95842260
liver tumor7 / 9635972
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal209 / 336030762
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood28 / 123478226
bone0 / 716550 
bone marrow4 / 4880181
brain69 / 110098962
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine3 / 23447212
kidney5 / 21177723
larynx1 / 2414541
liver9 / 20774343
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth5 / 6705274
muscle6 / 10771555
nerve1 / 1576863
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta41 / 280825145
prostate3 / 18934515
salivary gland0 / 201550 
skin1 / 2105744
spleen10 / 53952185
stomach1 / 9661910
testis4 / 33044212
thymus12 / 81131147
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord48 / 136803508
uterus2 / 2328788
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218660_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.6
Adipocyte22.45
AdrenalCortex31.25
Adrenalgland19.25
Amygdala27.2
Appendix22.65
AtrioventricularNode14.1
BDCA4+_DentriticCells23.85
Bonemarrow119
BronchialEpithelialCells25
CD105+_Endothelial16.3
CD14+_Monocytes165
CD19+_BCells(neg._sel.)9.95
CD33+_Myeloid344.15
CD34+13.5
CD4+_Tcells16.8
CD56+_NKCells26
CD71+_EarlyErythroid23.25
CD8+_Tcells18.2
CardiacMyocytes29.15
Caudatenucleus30.5
Cerebellum18.35
CerebellumPeduncles27.15
CiliaryGanglion10.3
CingulateCortex36.3
Colorectaladenocarcinoma21.05
DorsalRootGanglion17.1
FetalThyroid30.25
Fetalbrain22.05
Fetalliver34.85
Fetallung20.7
GlobusPallidus14.15
Heart108.95
Hypothalamus41.15
Kidney18.5
Leukemia_chronicMyelogenousK-56220.15
Leukemia_promyelocytic-HL-6018.7
Leukemialymphoblastic(MOLT-4)17.5
Liver60.05
Lung51.4
Lymphnode19.8
Lymphoma_burkitts(Daudi)27.85
Lymphoma_burkitts(Raji)30.75
MedullaOblongata31.95
OccipitalLobe27
OlfactoryBulb17.25
Ovary14.95
Pancreas18.2
PancreaticIslet27.75
ParietalLobe26.5
Pituitary26.55
Placenta275.35
Pons21.55
PrefrontalCortex116.75
Prostate31.6
Salivarygland18.75
SkeletalMuscle43.9
Skin12.75
SmoothMuscle25.6
Spinalcord24
SubthalamicNucleus20.65
SuperiorCervicalGanglion25.5
TemporalLobe19.65
Testis34.1
TestisGermCell18.8
TestisIntersitial18.55
TestisLeydigCell21.95
TestisSeminiferousTubule19.35
Thalamus31.35
Thymus24.75
Thyroid47.95
Tongue29.75
Tonsil21.95
Trachea18.95
TrigeminalGanglion22.3
Uterus18.4
UterusCorpus20.3
WholeBlood679.5
Wholebrain42.95
colon33.25
pineal_day19.74
pineal_night20.42
retina30.65
small_intestine45.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P39925
  • 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
Amygdala5.59 ± 0.42
Basal Forebrain6.59 ± 0.48
Basal Part of Pons7.19 ± 0.25
Cerebellar Cortex5.94 ± 0.34
Cerebellar Nuclei7.71 ± 0.25
Claustrum6.53 ± 0.36
Epithalamus5.28 ± 0.8
Frontal Lobe6.41 ± 0.7
Globus Pallidus7.78 ± 0.5
Hypothalamus6.8 ± 0.46
Insula5.7 ± 0.42
Limbic Lobe6.03 ± 0.61
Mesencephalon6.59 ± 0.53
Myelencephalon6.4 ± 0.69
Occipital Lobe6.4 ± 0.59
Parietal Lobe6.36 ± 0.56
Pontine Tegmentum6.38 ± 0.57
Striatum6.85 ± 0.58
Subthalamus7.08 ± 0.33
Temporal Lobe6.11 ± 0.49
Thalamus6.75 ± 0.44
White Matter8.77 ± 0.5
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00074637 12 1630 1641 MFELTCTLPLEK 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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