AutismKB 2.0

Annotation Detail for TWF2


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Basic Information Top
Gene Symbol:TWF2 ( A6RP,A6r,PTK9L )
Gene Full Name: twinfilin, actin-binding protein, homolog 2 (Drosophila)
Band: 3p21.2
Quick LinksEntrez ID:11344; OMIM: 607433; Uniprot ID:TWF2_HUMAN; ENSEMBL ID: ENSG00000173366,ENSG00000247596; HGNC ID: 9621
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 body7 / 7076198
blastocyst1 / 6231916
fetus34 / 56401260
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult180 / 193912192
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma14 / 82823169
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor19 / 119369159
germ cell tumor17 / 26384564
glioma8 / 10688374
head and neck tumor5 / 13630236
kidney tumor6 / 6895987
leukemia13 / 95842135
liver tumor2 / 9635920
lung tumor9 / 10312787
lymphoma31 / 71755432
non-neoplasia2 / 9725020
normal245 / 336030772
ovarian tumor6 / 7668278
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer15 / 102680146
retinoblastoma9 / 46356194
skin tumor32 / 124949256
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood21 / 123478170
bone9 / 71655125
bone marrow5 / 48801102
brain56 / 110098950
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye23 / 211054108
heart5 / 8962655
intestine20 / 23447285
kidney8 / 21177737
larynx0 / 241450 
liver8 / 20774338
lung38 / 336974112
lymph16 / 44270361
lymph node6 / 9161065
mammary gland11 / 15327171
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary15 / 102051146
pancreas24 / 214812111
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta30 / 280825106
prostate21 / 189345110
salivary gland4 / 20155198
skin35 / 210574166
spleen0 / 539520 
stomach13 / 96619134
testis8 / 33044224
thymus2 / 8113124
thyroid0 / 474730 
tonsil9 / 16999529
trachea0 / 524130 
umbilical cord0 / 136800 
uterus20 / 23287885
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202009_at
Cell line Expression level Expression bar
721_B_lymphoblasts126.25
Adipocyte147.45
AdrenalCortex49.05
Adrenalgland55.2
Amygdala45.3
Appendix32.3
AtrioventricularNode61.35
BDCA4+_DentriticCells263.25
Bonemarrow62.95
BronchialEpithelialCells65.75
CD105+_Endothelial91.05
CD14+_Monocytes353.9
CD19+_BCells(neg._sel.)182.95
CD33+_Myeloid275.1
CD34+140.65
CD4+_Tcells141.35
CD56+_NKCells206.35
CD71+_EarlyErythroid45.15
CD8+_Tcells144.45
CardiacMyocytes125.7
Caudatenucleus43.5
Cerebellum52.3
CerebellumPeduncles96.55
CiliaryGanglion42.45
CingulateCortex81.85
Colorectaladenocarcinoma65.4
DorsalRootGanglion54.7
FetalThyroid51.95
Fetalbrain56.45
Fetalliver34.25
Fetallung42.55
GlobusPallidus48.2
Heart302.85
Hypothalamus59.7
Kidney45.95
Leukemia_chronicMyelogenousK-56256.85
Leukemia_promyelocytic-HL-6060.95
Leukemialymphoblastic(MOLT-4)66
Liver59.4
Lung136.45
Lymphnode69.75
Lymphoma_burkitts(Daudi)96.7
Lymphoma_burkitts(Raji)175.95
MedullaOblongata48.3
OccipitalLobe48.3
OlfactoryBulb21.7
Ovary30.25
Pancreas30.15
PancreaticIslet50.8
ParietalLobe49.95
Pituitary88.55
Placenta59.3
Pons51.85
PrefrontalCortex52.7
Prostate80.85
Salivarygland36.4
SkeletalMuscle68.9
Skin40.2
SmoothMuscle132.8
Spinalcord47.65
SubthalamicNucleus79.7
SuperiorCervicalGanglion46.8
TemporalLobe75
Testis40.2
TestisGermCell38.75
TestisIntersitial35.1
TestisLeydigCell38.6
TestisSeminiferousTubule51.15
Thalamus58.9
Thymus52.45
Thyroid68.3
Tongue76.6
Tonsil65.75
Trachea40.4
TrigeminalGanglion48.7
Uterus33.8
UterusCorpus26.8
WholeBlood172.25
Wholebrain61.4
colon50.7
pineal_day56.82
pineal_night55.48
retina53.525
small_intestine46.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1070_PI416261804
  • 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
Amygdala7.02 ± 0.36
Basal Forebrain6.36 ± 0.21
Basal Part of Pons6.72 ± 0.25
Cerebellar Cortex6.69 ± 0.44
Cerebellar Nuclei5.95 ± 0.53
Claustrum7 ± 0.48
Epithalamus6.09 ± 0.23
Frontal Lobe6.66 ± 0.48
Globus Pallidus5.15 ± 0.45
Hypothalamus6.3 ± 0.42
Insula6.54 ± 0.31
Limbic Lobe6.89 ± 0.52
Mesencephalon6.32 ± 0.54
Myelencephalon6.49 ± 0.55
Occipital Lobe6.34 ± 0.4
Parietal Lobe6.44 ± 0.47
Pontine Tegmentum6.38 ± 0.65
Striatum5.94 ± 0.51
Subthalamus6.25 ± 0.49
Temporal Lobe6.6 ± 0.44
Thalamus5.84 ± 0.52
White Matter5.27 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptk9lCBCerebellum2.31
2.56
Ptk9lCTXCerebral cortex43.34
35.04
Ptk9lHIPHippocampal region23.1
31.65
Ptk9lHPFHippocampal formation25.12
29.07
Ptk9lHYHypothalamus2.54
2.19
Ptk9lLSXLateral septal complex25.63
19.98
Ptk9lMBMidbrain2.54
2.72
Ptk9lMYMedulla4.04
5.23
Ptk9lOLFOlfactory bulb15.47
13.66
Ptk9lPPons3.73
5.14
Ptk9lPALPallidum2.93
2.5
Ptk9lRHPRetrohippocampal region29.41
27.26
Ptk9lsAMYStriatum-like amygdalar nuclei10.96
9.09
Ptk9lSTRStriatum4.98
4.11
Ptk9lSTRdStriatum dorsal region2.31
2.05
Ptk9lSTRvStriatum ventral region4.27
3.43
Ptk9lTHThalamus3.23
2.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000784 17 56 72 AVLPLLDAQQPCYLLYR Peptide Atlas
TWF2_HUMAN_0 0 0 0 AVLPLLDAQQPCYLLYR PRIDE
TWF2_HUMAN_0 0 0 0 ETIELVHTEPTDVAQLPSRVPR PRIDE
TWF2_HUMAN_0 0 0 0 HQTLQGLAFPLQPEAQR PRIDE
TWF2_HUMAN_0 0 0 0 INEVKTEISVESK PRIDE
TWF2_HUMAN_0 0 0 0 KIEIGDGAELTAEFLYDEVHPK PRIDE
TWF2_HUMAN_0 0 0 0 VVIEDEQLVLGASQEPVGR PRIDE
TWF2_HUMAN_136 16 136 151 HLSSCAAPAPLTSAER PRIDE
TWF2_HUMAN_158 13 158 170 INEVKTEISVESK PRIDE
TWF2_HUMAN_171 17 171 187 HQTLQGLAFPLQPEAQR PRIDE
TWF2_HUMAN_196 8 196 203 MVNYIQMK PRIDE
TWF2_HUMAN_2 20 2 21 AHQTGIHATEELKEFFAKAR PRIDE
TWF2_HUMAN_204 27 204 230 LDLERETIELVHTEPTDVAQLPSRVPR PRIDE
TWF2_HUMAN_209 19 209 227 ETIELVHTEPTDVAQLPSR PRIDE
TWF2_HUMAN_209 22 209 230 ETIELVHTEPTDVAQLPSRVPR PRIDE
TWF2_HUMAN_29 19 29 47 VVIEDEQLVLGASQEPVGR PRIDE
TWF2_HUMAN_293 22 293 314 KIEIGDGAELTAEFLYDEVHPK PRIDE
TWF2_HUMAN_38 11 38 48 VLGASQEPVGR PRIDE
TWF2_HUMAN_55 17 55 71 AVLPLLDAQQPCYLLYR 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


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