AutismKB 2.0

Annotation Detail for SLC4A1


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Basic Information Top
Gene Symbol:SLC4A1 ( AE1,BND3,CD233,DI,EMPB3,EPB3,FR,MGC116750,MGC116753,MGC126619,MGC126623,RTA1A,SW,WD,WD1,WR )
Gene Full Name: solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
Band: 17q21.31
Quick LinksEntrez ID:6521; OMIM: 109270; Uniprot ID:B3AT_HUMAN; ENSEMBL ID: ENSG00000004939; HGNC ID: 11027
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 
fetus57 / 564012101
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 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 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal70 / 336030720
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 
blood4 / 12347832
bone2 / 7165527
bone marrow2 / 4880140
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart5 / 8962655
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver20 / 20774396
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
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: 205592_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.35
Adipocyte29.75
AdrenalCortex29.7
Adrenalgland30.5
Amygdala26.15
Appendix30.75
AtrioventricularNode27
BDCA4+_DentriticCells24.15
Bonemarrow2967.35
BronchialEpithelialCells27.7
CD105+_Endothelial3850.25
CD14+_Monocytes25.3
CD19+_BCells(neg._sel.)25.7
CD33+_Myeloid30.85
CD34+31.5
CD4+_Tcells23.9
CD56+_NKCells29.15
CD71+_EarlyErythroid14045.85
CD8+_Tcells21.85
CardiacMyocytes54.4
Caudatenucleus25.95
Cerebellum37.05
CerebellumPeduncles35.2
CiliaryGanglion27.3
CingulateCortex31.5
Colorectaladenocarcinoma29.1
DorsalRootGanglion25.35
FetalThyroid61.75
Fetalbrain37.1
Fetalliver2341.8
Fetallung578.55
GlobusPallidus23.45
Heart49.9
Hypothalamus29.2
Kidney84.5
Leukemia_chronicMyelogenousK-56228.6
Leukemia_promyelocytic-HL-6025.35
Leukemialymphoblastic(MOLT-4)27
Liver56
Lung30.15
Lymphnode28.6
Lymphoma_burkitts(Daudi)38.25
Lymphoma_burkitts(Raji)45.85
MedullaOblongata26.75
OccipitalLobe28.15
OlfactoryBulb23.5
Ovary22
Pancreas24.45
PancreaticIslet30.05
ParietalLobe32.4
Pituitary46.5
Placenta30.8
Pons27.75
PrefrontalCortex27.25
Prostate32.6
Salivarygland25.3
SkeletalMuscle47.15
Skin40.8
SmoothMuscle31.1
Spinalcord31.1
SubthalamicNucleus26.45
SuperiorCervicalGanglion34.7
TemporalLobe26.3
Testis28
TestisGermCell24.5
TestisIntersitial24.3
TestisLeydigCell30.6
TestisSeminiferousTubule27.6
Thalamus32.5
Thymus22.4
Thyroid32.1
Tongue28.05
Tonsil28.2
Trachea24.4
TrigeminalGanglion36.5
Uterus22.55
UterusCorpus35.15
WholeBlood32.15
Wholebrain22.85
colon28.9
pineal_day24.64
pineal_night22.82
retina34.95
small_intestine28.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P89380
  • 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
Amygdala2.17 ± 1.22
Basal Forebrain1.49 ± 0.31
Basal Part of Pons1.33 ± 0.51
Cerebellar Cortex1.86 ± 0.81
Cerebellar Nuclei2.14 ± 0.72
Claustrum2.71 ± 1
Epithalamus1.6 ± 0.9
Frontal Lobe1.48 ± 0.78
Globus Pallidus2.08 ± 0.62
Hypothalamus1.62 ± 0.73
Insula1.62 ± 0.83
Limbic Lobe1.7 ± 0.83
Mesencephalon1.87 ± 0.86
Myelencephalon1.64 ± 0.72
Occipital Lobe1.65 ± 0.8
Parietal Lobe1.7 ± 0.99
Pontine Tegmentum1.71 ± 0.9
Striatum1.64 ± 0.72
Subthalamus1.79 ± 0.51
Temporal Lobe1.58 ± 0.8
Thalamus1.54 ± 0.71
White Matter2.29 ± 0.86
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc4a1CBCerebellum3.82
7.14
Slc4a1CTXCerebral cortex4.19
4.24
Slc4a1HIPHippocampal region3.29
3.14
Slc4a1HPFHippocampal formation3.27
3
Slc4a1HYHypothalamus3.6
5.38
Slc4a1LSXLateral septal complex1.43
1.96
Slc4a1MBMidbrain1.01
1.89
Slc4a1MYMedulla1.56
2.92
Slc4a1OLFOlfactory bulb13.39
11.93
Slc4a1PPons3.18
7.33
Slc4a1PALPallidum1.34
2.4
Slc4a1RHPRetrohippocampal region3.21
2.8
Slc4a1sAMYStriatum-like amygdalar nuclei0.64
0.69
Slc4a1STRStriatum1.49
1.54
Slc4a1STRdStriatum dorsal region0.81
0.79
Slc4a1STRvStriatum ventral region4.35
4.04
Slc4a1THThalamus0.79
0.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00032156 13 234 246 ADFLEQPVLGFVR 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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