AutismKB 2.0

Annotation Detail for TWF1


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Basic Information Top
Gene Symbol:TWF1 ( A6,MGC23788,MGC41876,PTK9 )
Gene Full Name: twinfilin, actin-binding protein, homolog 1 (Drosophila)
Band: 12q12
Quick LinksEntrez ID:5756; OMIM: 610932; Uniprot ID:TWF1_HUMAN; ENSEMBL ID: ENSG00000151239; HGNC ID: 9620
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 body3 / 7076142
blastocyst0 / 623190 
fetus26 / 56401246
neonate3 / 3109796
infant0 / 236200 
juvenile5 / 5555689
adult194 / 1939121100
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor12 / 114246105
esophageal tumor3 / 17290173
gastrointestinal tumor12 / 119369100
germ cell tumor9 / 26384534
glioma5 / 10688346
head and neck tumor12 / 13630288
kidney tumor9 / 68959130
leukemia8 / 9584283
liver tumor8 / 9635983
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal231 / 336030768
ovarian tumor8 / 76682104
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer27 / 102680262
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites3 / 4001574
bladder6 / 29757201
blood2 / 12347816
bone9 / 71655125
bone marrow1 / 4880120
brain39 / 110098935
cervix3 / 4817162
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus3 / 20209148
eye8 / 21105437
heart4 / 8962644
intestine18 / 23447276
kidney28 / 211777132
larynx3 / 24145124
liver13 / 20774362
lung21 / 33697462
lymph0 / 442700 
lymph node18 / 91610196
mammary gland12 / 15327178
mouth4 / 6705259
muscle4 / 10771537
nerve2 / 15768126
ovary11 / 102051107
pancreas22 / 214812102
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta26 / 28082592
prostate33 / 189345174
salivary gland0 / 201550 
skin23 / 210574109
spleen1 / 5395218
stomach9 / 9661993
testis26 / 33044278
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus27 / 232878115
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214007_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.9
Adipocyte15.55
AdrenalCortex6.05
Adrenalgland4.4
Amygdala5.6
Appendix6.65
AtrioventricularNode4.15
BDCA4+_DentriticCells11.55
Bonemarrow5.15
BronchialEpithelialCells47
CD105+_Endothelial5.15
CD14+_Monocytes5.45
CD19+_BCells(neg._sel.)8.35
CD33+_Myeloid7.6
CD34+6.7
CD4+_Tcells6.55
CD56+_NKCells12.15
CD71+_EarlyErythroid4.8
CD8+_Tcells5.5
CardiacMyocytes18
Caudatenucleus4.6
Cerebellum4.2
CerebellumPeduncles5.9
CiliaryGanglion3.75
CingulateCortex5.3
Colorectaladenocarcinoma7.7
DorsalRootGanglion4
FetalThyroid5.1
Fetalbrain5.25
Fetalliver4.5
Fetallung4.25
GlobusPallidus3.95
Heart6.65
Hypothalamus5.7
Kidney4.2
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.1
Liver6.9
Lung5.6
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.6
Lymphoma_burkitts(Raji)7.3
MedullaOblongata4.8
OccipitalLobe4.7
OlfactoryBulb4.05
Ovary4
Pancreas11.5
PancreaticIslet27.75
ParietalLobe5.45
Pituitary6.65
Placenta5.35
Pons4.95
PrefrontalCortex6.7
Prostate6.35
Salivarygland4.3
SkeletalMuscle6.1
Skin4.3
SmoothMuscle34.8
Spinalcord5.5
SubthalamicNucleus4.75
SuperiorCervicalGanglion5.95
TemporalLobe5.05
Testis4.35
TestisGermCell4.2
TestisIntersitial4.35
TestisLeydigCell5.15
TestisSeminiferousTubule4.45
Thalamus5.3
Thymus4.05
Thyroid6.55
Tongue6.15
Tonsil7.9
Trachea4.4
TrigeminalGanglion5.2
Uterus4.3
UterusCorpus4.9
WholeBlood5.75
Wholebrain4.75
colon28.5
pineal_day6.76
pineal_night7.18
retina6.175
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P178273
  • 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
Amygdala6.46 ± 0.44
Basal Forebrain6.81 ± 0.08
Basal Part of Pons6.63 ± 0.37
Cerebellar Cortex6.37 ± 0.19
Cerebellar Nuclei6.69 ± 0.58
Claustrum6.26 ± 0.48
Epithalamus7.04 ± 0.46
Frontal Lobe6.63 ± 0.35
Globus Pallidus7.66 ± 0.21
Hypothalamus6.84 ± 0.24
Insula6.6 ± 0.32
Limbic Lobe6.55 ± 0.35
Mesencephalon6.78 ± 0.42
Myelencephalon6.65 ± 0.41
Occipital Lobe6.8 ± 0.28
Parietal Lobe6.6 ± 0.41
Pontine Tegmentum6.69 ± 0.33
Striatum7.09 ± 0.26
Subthalamus6.52 ± 0.59
Temporal Lobe6.5 ± 0.31
Thalamus6.76 ± 0.4
White Matter7.98 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptk9CBCerebellum16.65
34.22
Ptk9CTXCerebral cortex100
100
Ptk9HIPHippocampal region100
100
Ptk9HPFHippocampal formation100
100
Ptk9HYHypothalamus71.85
71.28
Ptk9LSXLateral septal complex100
100
Ptk9MBMidbrain47
52.92
Ptk9MYMedulla17.29
25.06
Ptk9OLFOlfactory bulb100
100
Ptk9PPons28.49
39.38
Ptk9PALPallidum88.36
93.01
Ptk9RHPRetrohippocampal region100
100
Ptk9sAMYStriatum-like amygdalar nuclei100
100
Ptk9STRStriatum100
100
Ptk9STRdStriatum dorsal region100
100
Ptk9STRvStriatum ventral region100
100
Ptk9THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069742 13 206 218 HQTLQGVAFPISR Peptide Atlas
TWF1_HUMAN_0 0 0 0 INEVQTDVGVDTK PRIDE
TWF1_HUMAN_176 13 176 188 INEVQTDVGVDTK PRIDE
TWF1_HUMAN_304 8 304 311 QLQMDVIR PRIDE

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