AutismKB 2.0

Annotation Detail for SLC9A3R1


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Basic Information Top
Gene Symbol:SLC9A3R1 ( EBP50,NHERF,NHERF1,NPHLOP2 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Band: 17q25.1
Quick LinksEntrez ID:9368; OMIM: 604990; Uniprot ID:NHRF1_HUMAN; ENSEMBL ID: ENSG00000109062; HGNC ID: 11075
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal3 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201349_at
Cell line Expression level Expression bar
721_B_lymphoblasts137.9
Adipocyte27.4
AdrenalCortex83.75
Adrenalgland140.75
Amygdala72.45
Appendix32.1
AtrioventricularNode31.65
BDCA4+_DentriticCells122.7
Bonemarrow84.05
BronchialEpithelialCells104.95
CD105+_Endothelial16.85
CD14+_Monocytes213.15
CD19+_BCells(neg._sel.)82.4
CD33+_Myeloid160.95
CD34+83.6
CD4+_Tcells222.5
CD56+_NKCells864.3
CD71+_EarlyErythroid24.8
CD8+_Tcells261.85
CardiacMyocytes28.3
Caudatenucleus60.1
Cerebellum111.5
CerebellumPeduncles74.6
CiliaryGanglion38.7
CingulateCortex48.1
Colorectaladenocarcinoma64.95
DorsalRootGanglion41.25
FetalThyroid38.85
Fetalbrain33.4
Fetalliver58.5
Fetallung24.65
GlobusPallidus44.15
Heart54.7
Hypothalamus40
Kidney202.4
Leukemia_chronicMyelogenousK-56229.35
Leukemia_promyelocytic-HL-6041.7
Leukemialymphoblastic(MOLT-4)84.4
Liver334.15
Lung49.1
Lymphnode68.5
Lymphoma_burkitts(Daudi)60.45
Lymphoma_burkitts(Raji)51.3
MedullaOblongata33.65
OccipitalLobe47.3
OlfactoryBulb34.1
Ovary26.4
Pancreas22.25
PancreaticIslet54.3
ParietalLobe41.9
Pituitary34.2
Placenta71.6
Pons40.75
PrefrontalCortex59.9
Prostate119.45
Salivarygland93.6
SkeletalMuscle23.8
Skin62.3
SmoothMuscle22.55
Spinalcord82.25
SubthalamicNucleus33.85
SuperiorCervicalGanglion73.2
TemporalLobe24.7
Testis44.45
TestisGermCell23.4
TestisIntersitial34.25
TestisLeydigCell31.75
TestisSeminiferousTubule28.9
Thalamus72.15
Thymus112.3
Thyroid59.8
Tongue231.8
Tonsil87.7
Trachea79.05
TrigeminalGanglion64.9
Uterus12.8
UterusCorpus23.55
WholeBlood225.75
Wholebrain56.55
colon54.35
pineal_day52.42
pineal_night57.32
retina163.75
small_intestine212.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1396_PI416573500
  • 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
Amygdala10.62 ± 0.63
Basal Forebrain10.3 ± 0.35
Basal Part of Pons10.48 ± 0.31
Cerebellar Cortex9.95 ± 0.3
Cerebellar Nuclei10.26 ± 0.56
Claustrum10.68 ± 0.43
Epithalamus9.85 ± 0.43
Frontal Lobe10.34 ± 0.5
Globus Pallidus10.86 ± 0.37
Hypothalamus10.1 ± 0.62
Insula10.15 ± 0.57
Limbic Lobe10.42 ± 0.45
Mesencephalon10.26 ± 0.53
Myelencephalon10.34 ± 0.55
Occipital Lobe10.26 ± 0.58
Parietal Lobe10.26 ± 0.45
Pontine Tegmentum10.19 ± 0.49
Striatum10.56 ± 0.54
Subthalamus10.37 ± 0.16
Temporal Lobe10.25 ± 0.55
Thalamus10.38 ± 0.43
White Matter10.92 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc9a3r1CBCerebellum100
100
Slc9a3r1CTXCerebral cortex100
100
Slc9a3r1HIPHippocampal region76.57
100
Slc9a3r1HPFHippocampal formation80.73
92.69
Slc9a3r1HYHypothalamus100
95.3
Slc9a3r1LSXLateral septal complex100
100
Slc9a3r1MBMidbrain85.88
82.19
Slc9a3r1MYMedulla61.71
63.23
Slc9a3r1OLFOlfactory bulb100
100
Slc9a3r1PPons67.27
66.97
Slc9a3r1PALPallidum70.35
63.97
Slc9a3r1RHPRetrohippocampal region90.32
79.93
Slc9a3r1sAMYStriatum-like amygdalar nuclei76.57
59.15
Slc9a3r1STRStriatum94.93
79.21
Slc9a3r1STRdStriatum dorsal region85.81
71
Slc9a3r1STRvStriatum ventral region100
100
Slc9a3r1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NHRF1_HUMAN_1 12 1 12 SADAAAGAPLPR PRIDE
NHRF1_HUMAN_112 26 112 137 AQEAPGQAEPPAAAEVQGAGNENEPR PRIDE
NHRF1_HUMAN_139 10 139 148 EADKSHPEQR PRIDE
NHRF1_HUMAN_180 14 180 193 SVDPDSPAEASGLR PRIDE
NHRF1_HUMAN_181 14 181 194 SVDPDSPAEASGLR PRIDE
NHRF1_HUMAN_198 12 198 209 IVEVNGVCMEGK PRIDE
NHRF1_HUMAN_2 12 2 13 SADAAAGAPLPR PRIDE
NHRF1_HUMAN_270 17 270 286 EALAEAALESPRPALVR PRIDE
NHRF1_HUMAN_50 28 50 77 AGLLAGDRLVEVNGENVEKETHQQVVSR PRIDE
NHRF1_HUMAN_87 14 87 100 LLVVDPETDEQLQK PRIDE
PAp00000650 16 195 210 AQDRIVEVNGVCMEGK 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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