AutismKB 2.0

Annotation Detail for MYOF


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Basic Information Top
Gene Symbol:MYOF ( FER1L3,FLJ36571,FLJ90777 )
Gene Full Name: myoferlin
Band: 10q23.33
Quick LinksEntrez ID:26509; OMIM: 604603; Uniprot ID:MYOF_HUMAN; ENSEMBL ID: ENSG00000138119; HGNC ID: 3656
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 body16 / 70761226
blastocyst4 / 6231964
fetus17 / 56401230
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult326 / 1939121168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor17 / 94178180
cervical tumor4 / 34366116
chondrosarcoma10 / 82823120
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor92 / 136302674
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor23 / 96359238
lung tumor14 / 103127135
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal238 / 336030770
ovarian tumor3 / 7668239
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer12 / 102680116
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites3 / 4001574
bladder5 / 29757168
blood7 / 12347856
bone13 / 71655181
bone marrow2 / 4880140
brain17 / 110098915
cervix4 / 4817183
connective tissue14 / 14925593
ear2 / 16212123
embryonic tissue26 / 215722120
esophagus0 / 202090 
eye9 / 21105442
heart6 / 8962666
intestine17 / 23447272
kidney8 / 21177737
larynx3 / 24145124
liver29 / 207743139
lung29 / 33697486
lymph0 / 442700 
lymph node1 / 9161010
mammary gland45 / 153271293
mouth6 / 6705289
muscle16 / 107715148
nerve1 / 1576863
ovary5 / 10205148
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx78 / 413281887
pituitary gland0 / 165850 
placenta27 / 28082596
prostate47 / 189345248
salivary gland0 / 201550 
skin12 / 21057456
spleen0 / 539520 
stomach5 / 9661951
testis5 / 33044215
thymus2 / 8113124
thyroid8 / 47473168
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus22 / 23287894
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211864_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts70.1
Adipocyte118.95
AdrenalCortex5.6
Adrenalgland4.55
Amygdala5.4
Appendix7.8
AtrioventricularNode4.5
BDCA4+_DentriticCells21.35
Bonemarrow5.4
BronchialEpithelialCells391
CD105+_Endothelial5.15
CD14+_Monocytes15.05
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid44.3
CD34+6.35
CD4+_Tcells5.4
CD56+_NKCells6.25
CD71+_EarlyErythroid4.85
CD8+_Tcells4.8
CardiacMyocytes57.7
Caudatenucleus4.7
Cerebellum4.2
CerebellumPeduncles6.05
CiliaryGanglion3.8
CingulateCortex6.75
Colorectaladenocarcinoma95.15
DorsalRootGanglion4.3
FetalThyroid10.35
Fetalbrain5.05
Fetalliver4.45
Fetallung40.45
GlobusPallidus3.9
Heart7.2
Hypothalamus5.65
Kidney4.45
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)4.1
Liver7.55
Lung7.15
Lymphnode5.95
Lymphoma_burkitts(Daudi)6.65
Lymphoma_burkitts(Raji)7.5
MedullaOblongata4.7
OccipitalLobe4.7
OlfactoryBulb4.2
Ovary3.9
Pancreas4.6
PancreaticIslet5.75
ParietalLobe5.7
Pituitary6.4
Placenta107.7
Pons5.05
PrefrontalCortex6.6
Prostate7.05
Salivarygland13.6
SkeletalMuscle7.3
Skin4.85
SmoothMuscle273.15
Spinalcord5.7
SubthalamicNucleus4.8
SuperiorCervicalGanglion6.5
TemporalLobe6.35
Testis4.55
TestisGermCell4.5
TestisIntersitial5.3
TestisLeydigCell5.3
TestisSeminiferousTubule4.8
Thalamus5.4
Thymus4.1
Thyroid27.55
Tongue8.7
Tonsil5.9
Trachea22.35
TrigeminalGanglion7
Uterus15.25
UterusCorpus13.65
WholeBlood8.9
Wholebrain4.2
colon19.3
pineal_day6.48
pineal_night6.48
retina16.225
small_intestine9.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P282309
  • 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
Amygdala2.64 ± 0.89
Basal Forebrain2.18 ± 0.53
Basal Part of Pons2.37 ± 0.52
Cerebellar Cortex2.04 ± 0.51
Cerebellar Nuclei3.12 ± 0.62
Claustrum2.73 ± 0.68
Epithalamus3.46 ± 0.8
Frontal Lobe2.56 ± 0.75
Globus Pallidus3.99 ± 0.35
Hypothalamus2.31 ± 0.71
Insula2.52 ± 0.7
Limbic Lobe2.34 ± 0.69
Mesencephalon2.57 ± 0.78
Myelencephalon2.59 ± 0.74
Occipital Lobe2.48 ± 0.75
Parietal Lobe2.46 ± 0.86
Pontine Tegmentum2.68 ± 0.72
Striatum3.38 ± 0.71
Subthalamus2.87 ± 0.21
Temporal Lobe2.42 ± 0.73
Thalamus2.81 ± 0.66
White Matter3.07 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fer1l3CBCerebellum10.2
10.44
Fer1l3CTXCerebral cortex18.02
12.57
Fer1l3HIPHippocampal region16.52
16.88
Fer1l3HPFHippocampal formation18.79
16.64
Fer1l3HYHypothalamus5.28
3.83
Fer1l3LSXLateral septal complex3.01
2
Fer1l3MBMidbrain7.35
7.17
Fer1l3MYMedulla13.06
14.86
Fer1l3OLFOlfactory bulb14.99
10.4
Fer1l3PPons10.19
10.96
Fer1l3PALPallidum4.17
3.4
Fer1l3RHPRetrohippocampal region23.71
16.77
Fer1l3sAMYStriatum-like amygdalar nuclei12.88
10.06
Fer1l3STRStriatum6.36
4.56
Fer1l3STRdStriatum dorsal region6.49
4.7
Fer1l3STRvStriatum ventral region2.91
1.69
Fer1l3THThalamus5.89
4.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MYOF_HUMAN_0 0 0 0 ILHQHLGAPEER PRIDE
MYOF_HUMAN_1093 16 1093 1108 LEGALGADTTEDGDEK PRIDE
MYOF_HUMAN_1149 22 1149 1170 NLLALDKDSFSDPYAHICFLHR PRIDE
MYOF_HUMAN_1210 19 1210 1228 VIMELFDNDQVGKDEFLGR PRIDE
MYOF_HUMAN_1211 13 1211 1223 VIMELFDNDQVGK PRIDE
MYOF_HUMAN_1211 19 1211 1229 VIMELFDNDQVGKDEFLGR PRIDE
MYOF_HUMAN_1349 12 1349 1360 TPNFPSSVLFMK PRIDE
MYOF_HUMAN_1360 16 1360 1375 VFLPKEELYMPPLVIK PRIDE
MYOF_HUMAN_1426 16 1426 1441 DIVIEMEDTKPLLASK PRIDE
MYOF_HUMAN_1427 16 1427 1442 DIVIEMEDTKPLLASK PRIDE
MYOF_HUMAN_1525 15 1525 1539 IYPLPDDPSVPAPPR PRIDE
MYOF_HUMAN_16 16 16 31 FGKPDPIVSVIFKDEK PRIDE
MYOF_HUMAN_1633 11 1633 1643 VGETIIDLENR PRIDE
MYOF_HUMAN_1668 14 1668 1681 DQLRPTQLLQNVAR PRIDE
MYOF_HUMAN_167 13 167 179 GPVGTVSEAQLAR PRIDE
MYOF_HUMAN_1682 15 1682 1696 FKGFPQPILSEDGSR PRIDE
MYOF_HUMAN_1714 12 1714 1725 ILHQHLGAPEER PRIDE
MYOF_HUMAN_1759 10 1759 1768 LQMWVDVFPK PRIDE
MYOF_HUMAN_1769 14 1769 1782 SLGPPGPPFNITPR PRIDE
MYOF_HUMAN_1847 18 1847 1864 FVFPFDYLPAEQLCIVAK PRIDE
MYOF_HUMAN_186 16 186 201 NSRRMLSNKPQDFQIR PRIDE
MYOF_HUMAN_190 12 190 201 MLSNKPQDFQIR PRIDE
MYOF_HUMAN_1907 11 1907 1917 HTIIPAKSPEK PRIDE
MYOF_HUMAN_1921 8 1921 1928 LDMIPDLK PRIDE
MYOF_HUMAN_1960 25 1960 1984 VMAGKVEMTLEILNEKEADERPAGK PRIDE
MYOF_HUMAN_1986 10 1986 1995 GRDEPNMNPK PRIDE
MYOF_HUMAN_1994 8 1994 2001 PKLDLPNR PRIDE
MYOF_HUMAN_281 16 281 296 IDVGFVYDEPGHAVMR PRIDE
MYOF_HUMAN_298 15 298 312 WLLLNDPEDTSSGSK PRIDE
MYOF_HUMAN_3 11 3 13 VIVESASNIPK PRIDE
MYOF_HUMAN_317 17 317 333 VSMFVLGTGDEPPPERR PRIDE
MYOF_HUMAN_318 16 318 333 VSMFVLGTGDEPPPER PRIDE
MYOF_HUMAN_363 19 363 381 IYRAEDIPQMDDAFSQTVK PRIDE
MYOF_HUMAN_367 16 367 382 AEDIPQMDDAFSQTVK PRIDE
MYOF_HUMAN_450 13 450 462 NDVVGTTYLHLSK PRIDE
MYOF_HUMAN_536 11 536 546 ILVELATFLEK PRIDE
MYOF_HUMAN_536 16 536 551 ILVELATFLEKTPPDK PRIDE
MYOF_HUMAN_55 24 55 78 GIPLDFSSSLGIIVKDFETIGQNK PRIDE
MYOF_HUMAN_653 13 653 665 LDAVNTLLAMAER PRIDE
MYOF_HUMAN_654 13 654 666 LDAVNTLLAMAER PRIDE
MYOF_HUMAN_681 12 681 692 IPANQLAELWLK PRIDE
MYOF_HUMAN_693 19 693 711 LIDEVIEDTRYTLPLTEGK PRIDE
MYOF_HUMAN_712 11 712 722 ANVTVLDTQIR PRIDE
MYOF_HUMAN_728 11 728 738 SLSQIHEAAVR PRIDE
MYOF_HUMAN_790 18 790 807 IPAHQVLYSTSGENASGK PRIDE
MYOF_HUMAN_917 23 917 939 SLLTEADAGHTEFTDEVYQNESR PRIDE
PAp00000905 15 1389 1403 CDPYAGKEDIVPQLK 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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