AutismKB 2.0

Annotation Detail for SLC4A5


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Basic Information Top
Gene Symbol:SLC4A5 ( MGC129662,NBC4 )
Gene Full Name: solute carrier family 4, sodium bicarbonate cotransporter, member 5
Band: 2p13.1
Quick LinksEntrez ID:57835; OMIM: 606757; Uniprot ID:S4A5_HUMAN; ENSEMBL ID: ENSG00000188687; HGNC ID: 18168
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 body2 / 7076128
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal28 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid6 / 47473126
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221723_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.55
Adipocyte4.45
AdrenalCortex4.85
Adrenalgland4.25
Amygdala4.75
Appendix4.6
AtrioventricularNode3.55
BDCA4+_DentriticCells4.8
Bonemarrow4.55
BronchialEpithelialCells4.45
CD105+_Endothelial4.5
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.75
CD34+5.55
CD4+_Tcells4.9
CD56+_NKCells5.2
CD71+_EarlyErythroid4.25
CD8+_Tcells4.35
CardiacMyocytes5.9
Caudatenucleus4.1
Cerebellum3.65
CerebellumPeduncles5.15
CiliaryGanglion3.25
CingulateCortex4.7
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.5
FetalThyroid4.4
Fetalbrain4.5
Fetalliver3.95
Fetallung3.75
GlobusPallidus3.35
Heart5.8
Hypothalamus4.9
Kidney4.75
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.65
Liver6.1
Lung4.9
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.75
Lymphoma_burkitts(Raji)6.3
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.8
Ovary3
Pancreas3.65
PancreaticIslet4.8
ParietalLobe4.85
Pituitary5.3
Placenta4.65
Pons4.3
PrefrontalCortex5.55
Prostate5.25
Salivarygland3.6
SkeletalMuscle5.45
Skin3.55
SmoothMuscle5.05
Spinalcord4.8
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.8
TemporalLobe4.1
Testis4.05
TestisGermCell3.8
TestisIntersitial3.8
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus4.65
Thymus3.55
Thyroid5.7
Tongue4.5
Tonsil4.6
Trachea3.8
TrigeminalGanglion4.55
Uterus3.7
UterusCorpus4.05
WholeBlood4.95
Wholebrain3.8
colon4.55
pineal_day5.62
pineal_night5.54
retina6.425
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15982_PI416261804
  • 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
Amygdala2.63 ± 1.1
Basal Forebrain2.06 ± 0.25
Basal Part of Pons1.66 ± 0.4
Cerebellar Cortex2.34 ± 0.74
Cerebellar Nuclei2.26 ± 0.77
Claustrum2.73 ± 0.72
Epithalamus1.68 ± 0.83
Frontal Lobe1.85 ± 0.72
Globus Pallidus2.51 ± 0.52
Hypothalamus2.12 ± 0.82
Insula1.93 ± 0.69
Limbic Lobe2.06 ± 0.89
Mesencephalon2.19 ± 0.72
Myelencephalon2.09 ± 0.75
Occipital Lobe2.16 ± 0.67
Parietal Lobe2.06 ± 0.78
Pontine Tegmentum2.11 ± 0.88
Striatum2.01 ± 0.95
Subthalamus2.12 ± 0.63
Temporal Lobe1.92 ± 0.72
Thalamus2.04 ± 0.66
White Matter2.29 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C330016K18RikCBCerebellum4.02
7.9
C330016K18RikCTXCerebral cortex3.32
2.79
C330016K18RikHIPHippocampal region0.92
0.94
C330016K18RikHPFHippocampal formation1.08
0.96
C330016K18RikHYHypothalamus0.33
0.25
C330016K18RikLSXLateral septal complex0.63
1.02
C330016K18RikMBMidbrain0.5
0.47
C330016K18RikMYMedulla3.17
4.43
C330016K18RikOLFOlfactory bulb2.21
1.39
C330016K18RikPPons1.28
1.24
C330016K18RikPALPallidum1.53
1.43
C330016K18RikRHPRetrohippocampal region1.37
0.96
C330016K18RiksAMYStriatum-like amygdalar nuclei3.07
3.52
C330016K18RikSTRStriatum2.76
3.78
C330016K18RikSTRdStriatum dorsal region3.7
5.9
C330016K18RikSTRvStriatum ventral region1.46
0.78
C330016K18RikTHThalamus2.14
2.35
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


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