AutismKB 2.0

Annotation Detail for LRRFIP1


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Basic Information Top
Gene Symbol:LRRFIP1 ( FLAP-1,FLIIAP1,GCF-2,GCF2,HUFI-1,MGC10947,MGC119738,MGC119739,TRIP )
Gene Full Name: leucine rich repeat (in FLII) interacting protein 1
Band: 2q37.3
Quick LinksEntrez ID:9208; OMIM: 603256; Uniprot ID:LRRF1_HUMAN; ENSEMBL ID: ENSG00000124831; HGNC ID: 6702
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 body4 / 7076156
blastocyst4 / 6231964
fetus70 / 564012124
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult278 / 1939121143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor13 / 94178138
cervical tumor4 / 34366116
chondrosarcoma12 / 82823144
colorectal tumor20 / 114246175
esophageal tumor2 / 17290115
gastrointestinal tumor15 / 119369125
germ cell tumor25 / 26384594
glioma6 / 10688356
head and neck tumor19 / 136302139
kidney tumor4 / 6895958
leukemia12 / 95842125
liver tumor15 / 96359155
lung tumor13 / 103127126
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal323 / 336030796
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer15 / 102680146
retinoblastoma0 / 463560 
skin tumor21 / 124949168
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites5 / 40015124
bladder6 / 29757201
blood10 / 12347880
bone21 / 71655293
bone marrow2 / 4880140
brain26 / 110098923
cervix6 / 48171124
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye9 / 21105442
heart11 / 89626122
intestine34 / 234472145
kidney21 / 21177799
larynx5 / 24145207
liver42 / 207743202
lung63 / 336974186
lymph3 / 4427067
lymph node29 / 91610316
mammary gland35 / 153271228
mouth9 / 67052134
muscle6 / 10771555
nerve2 / 15768126
ovary7 / 10205168
pancreas7 / 21481232
parathyroid9 / 20539438
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta36 / 280825128
prostate22 / 189345116
salivary gland0 / 201550 
skin37 / 210574175
spleen1 / 5395218
stomach13 / 96619134
testis5 / 33044215
thymus9 / 81131110
thyroid7 / 47473147
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus27 / 232878115
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201862_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts615.85
Adipocyte9.85
AdrenalCortex8.25
Adrenalgland5.9
Amygdala8.1
Appendix8.6
AtrioventricularNode6.25
BDCA4+_DentriticCells361.6
Bonemarrow12.05
BronchialEpithelialCells65.1
CD105+_Endothelial24.45
CD14+_Monocytes700.85
CD19+_BCells(neg._sel.)390.65
CD33+_Myeloid1100.15
CD34+192.1
CD4+_Tcells314.3
CD56+_NKCells415.65
CD71+_EarlyErythroid6.65
CD8+_Tcells336.45
CardiacMyocytes11.65
Caudatenucleus6.65
Cerebellum5.6
CerebellumPeduncles8.9
CiliaryGanglion5.95
CingulateCortex7.35
Colorectaladenocarcinoma152.75
DorsalRootGanglion8.7
FetalThyroid6.8
Fetalbrain6.5
Fetalliver6.7
Fetallung13.65
GlobusPallidus5.35
Heart9.9
Hypothalamus7.75
Kidney6.25
Leukemia_chronicMyelogenousK-56216.65
Leukemia_promyelocytic-HL-60121.9
Leukemialymphoblastic(MOLT-4)55.1
Liver9.95
Lung8.55
Lymphnode51.55
Lymphoma_burkitts(Daudi)14.8
Lymphoma_burkitts(Raji)162.1
MedullaOblongata6.55
OccipitalLobe6.2
OlfactoryBulb6.35
Ovary6.85
Pancreas15.95
PancreaticIslet50.8
ParietalLobe7.6
Pituitary12
Placenta13.25
Pons6.75
PrefrontalCortex9.25
Prostate49.95
Salivarygland18.8
SkeletalMuscle9.5
Skin11.2
SmoothMuscle18.8
Spinalcord7.85
SubthalamicNucleus7.1
SuperiorCervicalGanglion9.85
TemporalLobe7.9
Testis5.75
TestisGermCell5.8
TestisIntersitial6.85
TestisLeydigCell7.6
TestisSeminiferousTubule5.8
Thalamus7.05
Thymus23
Thyroid185.6
Tongue12.95
Tonsil51.4
Trachea51.8
TrigeminalGanglion8.95
Uterus41.7
UterusCorpus7
WholeBlood859.25
Wholebrain5.2
colon58.6
pineal_day15.28
pineal_night30.6
retina12.65
small_intestine42.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P435183
  • 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
Amygdala8.6 ± 0.22
Basal Forebrain8.26 ± 0.21
Basal Part of Pons7.84 ± 0.23
Cerebellar Cortex8.33 ± 0.21
Cerebellar Nuclei7.83 ± 0.38
Claustrum8.41 ± 0.28
Epithalamus8.03 ± 0.48
Frontal Lobe8.32 ± 0.37
Globus Pallidus7.5 ± 0.35
Hypothalamus8.11 ± 0.19
Insula8.27 ± 0.48
Limbic Lobe8.55 ± 0.36
Mesencephalon8.23 ± 0.46
Myelencephalon8.23 ± 0.32
Occipital Lobe8.66 ± 0.32
Parietal Lobe8.44 ± 0.26
Pontine Tegmentum8.3 ± 0.34
Striatum7.72 ± 0.47
Subthalamus8.22 ± 0.19
Temporal Lobe8.35 ± 0.24
Thalamus8.18 ± 0.28
White Matter6.82 ± 0.26
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LRRF1_HUMAN_0 0 0 0 AGGEELDEGVAKDNAK PRIDE
LRRF1_HUMAN_0 0 0 0 AMVSNAQLDNEK PRIDE
LRRF1_HUMAN_0 0 0 0 EFTNQEAAEPK PRIDE
LRRF1_HUMAN_0 0 0 0 EIDCLSPEAQK PRIDE
LRRF1_HUMAN_0 0 0 0 ELTYQNTDLSEIKEEEQVK PRIDE
LRRF1_HUMAN_0 0 0 0 HAHSILQFQFAEVK PRIDE
LRRF1_HUMAN_0 0 0 0 IAAESSENVDCPENPK PRIDE
LRRF1_HUMAN_0 0 0 0 IDGATQSSPAEPK PRIDE
LRRF1_HUMAN_0 0 0 0 NEIVANVGKR PRIDE
LRRF1_HUMAN_0 0 0 0 SAVEAQNEVTENPK PRIDE
LRRF1_HUMAN_1 10 1 10 MTSPAAAQSR PRIDE
LRRF1_HUMAN_10 11 10 20 EIDCLSPEAQK PRIDE
LRRF1_HUMAN_2 9 2 10 TSPAAAQSR PRIDE
LRRF1_HUMAN_224 14 224 237 HAHSILQFQFAEVK PRIDE
LRRF1_HUMAN_279 10 279 288 MTKEELNALK PRIDE
LRRF1_HUMAN_298 17 298 314 ASEVEVKNEIVANVGKR PRIDE
LRRF1_HUMAN_474 11 474 484 EFTNQEAAEPK PRIDE
LRRF1_HUMAN_579 10 579 588 KSPVPVETLK PRIDE
LRRF1_HUMAN_593 19 593 611 ELTYQNTDLSEIKEEEQVK PRIDE
LRRF1_HUMAN_617 14 617 630 SAVEAQNEVTENPK PRIDE
LRRF1_HUMAN_633 16 633 648 IAAESSENVDCPENPK PRIDE
LRRF1_HUMAN_690 16 690 705 AGGEELDEGVAKDNAK PRIDE
LRRF1_HUMAN_762 27 762 788 ALDSNSLENDDLSAPGREPGHFNPESR PRIDE
LRRF1_HUMAN_98 19 98 116 NMPGLSAATLASLGGTSSR PRIDE
PAp00001213 19 432 450 CMVEVPQELETSTGHSLEK 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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