AutismKB 2.0

Annotation Detail for FNBP1L


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Basic Information Top
Gene Symbol:FNBP1L ( C1orf39,TOCA1 )
Gene Full Name: formin binding protein 1-like
Band: 1p22.1
Quick LinksEntrez ID:54874; OMIM: 608848; Uniprot ID:FBP1L_HUMAN; ENSEMBL ID: ENSG00000137942; HGNC ID: 20851
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 body6 / 7076184
blastocyst6 / 6231996
fetus73 / 564012129
neonate5 / 31097160
infant1 / 2362042
juvenile4 / 5555671
adult85 / 193912143
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) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor21 / 26384579
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor7 / 9635972
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal197 / 336030758
ovarian tumor7 / 7668291
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder2 / 2975767
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain76 / 110098969
cervix1 / 4817120
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye12 / 21105456
heart8 / 8962689
intestine10 / 23447242
kidney22 / 211777103
larynx1 / 2414541
liver12 / 20774357
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland13 / 15327184
mouth2 / 6705229
muscle9 / 10771583
nerve1 / 1576863
ovary7 / 10205168
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate8 / 18934542
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach2 / 9661920
testis18 / 33044254
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord3 / 13680219
uterus12 / 23287851
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215017_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte6.55
AdrenalCortex7.65
Adrenalgland5.75
Amygdala17.35
Appendix7.2
AtrioventricularNode5.95
BDCA4+_DentriticCells6.25
Bonemarrow6.85
BronchialEpithelialCells13
CD105+_Endothelial6.45
CD14+_Monocytes6.9
CD19+_BCells(neg._sel.)6
CD33+_Myeloid7.05
CD34+8.7
CD4+_Tcells6.35
CD56+_NKCells7.7
CD71+_EarlyErythroid6.25
CD8+_Tcells5.65
CardiacMyocytes10.15
Caudatenucleus25.2
Cerebellum5.15
CerebellumPeduncles7.75
CiliaryGanglion5.5
CingulateCortex6.9
Colorectaladenocarcinoma7.8
DorsalRootGanglion5.55
FetalThyroid26.4
Fetalbrain440.45
Fetalliver6.6
Fetallung50.35
GlobusPallidus5.2
Heart9.65
Hypothalamus19.95
Kidney6.2
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)5.5
Liver9.35
Lung13.8
Lymphnode5.7
Lymphoma_burkitts(Daudi)8.2
Lymphoma_burkitts(Raji)9.35
MedullaOblongata8.65
OccipitalLobe6.95
OlfactoryBulb5.95
Ovary4.7
Pancreas15.3
PancreaticIslet35.35
ParietalLobe7.2
Pituitary8.25
Placenta6.7
Pons6.65
PrefrontalCortex8.7
Prostate84.5
Salivarygland17.65
SkeletalMuscle8.65
Skin6.25
SmoothMuscle7.9
Spinalcord19.05
SubthalamicNucleus6.4
SuperiorCervicalGanglion8.9
TemporalLobe6
Testis7.05
TestisGermCell12.8
TestisIntersitial5.75
TestisLeydigCell6.95
TestisSeminiferousTubule6.35
Thalamus7.4
Thymus5.05
Thyroid128
Tongue7
Tonsil6.15
Trachea20.3
TrigeminalGanglion7.3
Uterus40.45
UterusCorpus6.35
WholeBlood6.85
Wholebrain5.25
colon60.4
pineal_day25.28
pineal_night12.72
retina8.9
small_intestine46.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P366967
  • 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
Amygdala9.32 ± 0.49
Basal Forebrain9.3 ± 0.12
Basal Part of Pons8.32 ± 0.31
Cerebellar Cortex8.55 ± 0.15
Cerebellar Nuclei8.75 ± 0.26
Claustrum9.21 ± 0.37
Epithalamus9.39 ± 0.3
Frontal Lobe8.62 ± 0.5
Globus Pallidus9 ± 0.28
Hypothalamus9.3 ± 0.44
Insula8.97 ± 0.28
Limbic Lobe8.6 ± 0.57
Mesencephalon9.08 ± 0.57
Myelencephalon9 ± 0.56
Occipital Lobe8.59 ± 0.42
Parietal Lobe8.73 ± 0.53
Pontine Tegmentum8.93 ± 0.48
Striatum10.35 ± 0.76
Subthalamus8.36 ± 0.39
Temporal Lobe8.89 ± 0.33
Thalamus8.89 ± 0.4
White Matter7.96 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fnbp1lCBCerebellum13.47
19.07
Fnbp1lCTXCerebral cortex100
100
Fnbp1lHIPHippocampal region20.61
25.7
Fnbp1lHPFHippocampal formation47.05
49.12
Fnbp1lHYHypothalamus69.43
55.1
Fnbp1lLSXLateral septal complex87.11
65.97
Fnbp1lMBMidbrain49.8
41.84
Fnbp1lMYMedulla24.9
23.58
Fnbp1lOLFOlfactory bulb100
99.76
Fnbp1lPPons33.58
31.87
Fnbp1lPALPallidum72.78
66.72
Fnbp1lRHPRetrohippocampal region87.46
78.49
Fnbp1lsAMYStriatum-like amygdalar nuclei100
98.52
Fnbp1lSTRStriatum100
100
Fnbp1lSTRdStriatum dorsal region100
100
Fnbp1lSTRvStriatum ventral region100
98.4
Fnbp1lTHThalamus32.39
27.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00029724 18 469 486 FDDEFEDDDPLPAIGHCK 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