AutismKB 2.0

Annotation Detail for LRFN1


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Basic Information Top
Gene Symbol:LRFN1 ( KIAA1484,SALM2 )
Gene Full Name: leucine rich repeat and fibronectin type III domain containing 1
Band: 19q13.2
Quick LinksEntrez ID:57622; OMIM: 612807; Uniprot ID:LRFN1_HUMAN; ENSEMBL ID: ENSG00000128011; HGNC ID: 29290
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 body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult8 / 19391214
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal6 / 33603071
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P40775
  • 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
Amygdala8.75 ± 0.78
Basal Forebrain8.68 ± 0.34
Basal Part of Pons8.26 ± 0.57
Cerebellar Cortex7.96 ± 0.35
Cerebellar Nuclei8.5 ± 0.45
Claustrum9.4 ± 0.8
Epithalamus7.52 ± 0.41
Frontal Lobe8.19 ± 0.58
Globus Pallidus9.62 ± 0.57
Hypothalamus8 ± 0.61
Insula8.16 ± 0.58
Limbic Lobe8.52 ± 0.68
Mesencephalon8.45 ± 0.69
Myelencephalon8.45 ± 0.75
Occipital Lobe8.35 ± 0.66
Parietal Lobe8.46 ± 0.8
Pontine Tegmentum8.38 ± 0.64
Striatum8.57 ± 0.75
Subthalamus8.27 ± 0.6
Temporal Lobe8.3 ± 0.7
Thalamus8.32 ± 0.59
White Matter8.88 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrfn1CBCerebellum3.83
5.89
Lrfn1CTXCerebral cortex55.74
49.18
Lrfn1HIPHippocampal region21.95
33.67
Lrfn1HPFHippocampal formation23.68
30.64
Lrfn1HYHypothalamus4.96
4.5
Lrfn1LSXLateral septal complex10.19
7.62
Lrfn1MBMidbrain6.83
8.74
Lrfn1MYMedulla1
1.3
Lrfn1OLFOlfactory bulb18.36
17.46
Lrfn1PPons3.52
5.82
Lrfn1PALPallidum10.93
10.93
Lrfn1RHPRetrohippocampal region27.8
28.21
Lrfn1sAMYStriatum-like amygdalar nuclei11.18
9.42
Lrfn1STRStriatum6.36
5.59
Lrfn1STRdStriatum dorsal region4.36
4.06
Lrfn1STRvStriatum ventral region8.65
7.24
Lrfn1THThalamus21.62
21.01
Peptide Top

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