AutismKB 2.0

Annotation Detail for SLC4A4


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Basic Information Top
Gene Symbol:SLC4A4 ( DKFZp781H1314,HNBC1,KNBC,NBC1,NBC2,SLC4A5,hhNMC,pNBC )
Gene Full Name: solute carrier family 4, sodium bicarbonate cotransporter, member 4
Band: 4q13.3
Quick LinksEntrez ID:8671; OMIM: 603345; Uniprot ID:S4A4_HUMAN; ENSEMBL ID: ENSG00000080493; HGNC ID: 11030
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 
fetus28 / 56401249
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult117 / 193912160
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor1 / 2638453
glioma10 / 10688393
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal190 / 336030756
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer45 / 102680438
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 
bladder2 / 2975767
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain56 / 110098950
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine6 / 23447225
kidney62 / 211777292
larynx0 / 241450 
liver19 / 20774391
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas30 / 214812139
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate51 / 189345269
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach14 / 96619144
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203908_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.7
AdrenalCortex6.7
Adrenalgland5.05
Amygdala313.85
Appendix7.65
AtrioventricularNode17.25
BDCA4+_DentriticCells5.75
Bonemarrow5.9
BronchialEpithelialCells5.6
CD105+_Endothelial5.75
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid7.25
CD34+7.05
CD4+_Tcells5.95
CD56+_NKCells9.6
CD71+_EarlyErythroid5.45
CD8+_Tcells5.3
CardiacMyocytes10.2
Caudatenucleus154.4
Cerebellum135
CerebellumPeduncles173.05
CiliaryGanglion7.05
CingulateCortex60.85
Colorectaladenocarcinoma5.9
DorsalRootGanglion11.9
FetalThyroid15.55
Fetalbrain26.75
Fetalliver5.2
Fetallung45.05
GlobusPallidus33.3
Heart7.75
Hypothalamus181.9
Kidney366.2
Leukemia_chronicMyelogenousK-5625.15
Leukemia_promyelocytic-HL-605.15
Leukemialymphoblastic(MOLT-4)4.6
Liver9.3
Lung6.35
Lymphnode4.9
Lymphoma_burkitts(Daudi)7.4
Lymphoma_burkitts(Raji)8.6
MedullaOblongata56.5
OccipitalLobe233.4
OlfactoryBulb31.7
Ovary3.9
Pancreas356
PancreaticIslet621.75
ParietalLobe62.85
Pituitary103.7
Placenta5.8
Pons39.5
PrefrontalCortex252.65
Prostate135.4
Salivarygland4.85
SkeletalMuscle9.05
Skin5
SmoothMuscle6.45
Spinalcord327.25
SubthalamicNucleus49.15
SuperiorCervicalGanglion32.65
TemporalLobe24.05
Testis4.95
TestisGermCell4.7
TestisIntersitial4.9
TestisLeydigCell5.8
TestisSeminiferousTubule5
Thalamus47.8
Thymus4.45
Thyroid249.85
Tongue6
Tonsil5.65
Trachea7.65
TrigeminalGanglion15.7
Uterus4.75
UterusCorpus6.2
WholeBlood6.3
Wholebrain79.3
colon403
pineal_day12.68
pineal_night18.3
retina140.1
small_intestine33.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P22205
  • 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
Amygdala8.32 ± 0.32
Basal Forebrain8.34 ± 0.24
Basal Part of Pons6.57 ± 0.36
Cerebellar Cortex7.65 ± 0.3
Cerebellar Nuclei6.51 ± 0.47
Claustrum7.32 ± 0.77
Epithalamus7.6 ± 1.03
Frontal Lobe7.62 ± 0.51
Globus Pallidus8.79 ± 0.41
Hypothalamus8.32 ± 0.25
Insula7.8 ± 0.38
Limbic Lobe7.53 ± 0.57
Mesencephalon8.11 ± 0.6
Myelencephalon7.93 ± 0.67
Occipital Lobe8.14 ± 0.6
Parietal Lobe7.71 ± 0.59
Pontine Tegmentum7.92 ± 0.44
Striatum8.72 ± 0.48
Subthalamus7.57 ± 0.2
Temporal Lobe7.71 ± 0.44
Thalamus8.13 ± 0.47
White Matter4.94 ± 0.46
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040006 27 175 201 EASSLPQLVEMIVDHQIETGLLKPELK 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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