AutismKB 2.0

Annotation Detail for SPTBN1


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Basic Information Top
Gene Symbol:SPTBN1 ( ELF,SPTB2,betaSpII )
Gene Full Name: spectrin, beta, non-erythrocytic 1
Band: 2p16.2
Quick LinksEntrez ID:6711; OMIM: 182790; Uniprot ID:SPTB2_HUMAN; ENSEMBL ID: ENSG00000115306; HGNC ID: 11275
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 body6 / 7076184
blastocyst10 / 62319160
fetus158 / 564012280
neonate1 / 3109732
infant7 / 23620296
juvenile12 / 55556215
adult801 / 1939121413
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult5 / 19391212
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor21 / 94178222
cervical tumor2 / 3436658
chondrosarcoma19 / 82823229
colorectal tumor91 / 114246796
esophageal tumor3 / 17290173
gastrointestinal tumor28 / 119369234
germ cell tumor2 / 2638457
glioma15 / 106883140
head and neck tumor98 / 136302718
kidney tumor7 / 68959101
leukemia63 / 95842657
liver tumor33 / 96359342
lung tumor29 / 103127281
lymphoma1 / 7175513
non-neoplasia25 / 97250257
normal779 / 3360307231
ovarian tumor16 / 76682208
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer8 / 10268077
retinoblastoma2 / 4635643
skin tumor22 / 124949176
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor20 / 90257221
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal9 / 33603072
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 tissue23 / 131061754
adrenal gland3 / 3319790
ascites5 / 40015124
bladder3 / 29757100
blood26 / 123478210
bone9 / 71655125
bone marrow7 / 48801143
brain300 / 1100989272
cervix5 / 48171103
connective tissue18 / 149255120
ear26 / 162121603
embryonic tissue34 / 215722157
esophagus4 / 20209197
eye53 / 211054251
heart46 / 89626513
intestine130 / 234472554
kidney22 / 211777103
larynx6 / 24145248
liver50 / 207743240
lung95 / 336974281
lymph0 / 442700 
lymph node52 / 91610567
mammary gland36 / 153271234
mouth51 / 67052760
muscle13 / 107715120
nerve10 / 15768634
ovary17 / 102051166
pancreas36 / 214812167
parathyroid21 / 205391022
pharynx9 / 41328217
pituitary gland3 / 16585180
placenta52 / 280825185
prostate25 / 189345132
salivary gland0 / 201550 
skin56 / 210574265
spleen8 / 53952148
stomach26 / 96619269
testis28 / 33044284
thymus3 / 8113136
thyroid41 / 47473863
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus37 / 232878158
vascular4 / 5178077
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
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: 212071_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1892.4
Adipocyte875.05
AdrenalCortex740.35
Adrenalgland787.15
Amygdala1265.8
Appendix348.1
AtrioventricularNode370.2
BDCA4+_DentriticCells460.1
Bonemarrow48.25
BronchialEpithelialCells814.9
CD105+_Endothelial81.45
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)650.1
CD33+_Myeloid163.35
CD34+630.3
CD4+_Tcells839.9
CD56+_NKCells358.95
CD71+_EarlyErythroid3.15
CD8+_Tcells807
CardiacMyocytes607.65
Caudatenucleus844.25
Cerebellum591.95
CerebellumPeduncles936.2
CiliaryGanglion689.95
CingulateCortex1552.3
Colorectaladenocarcinoma247.8
DorsalRootGanglion598.95
FetalThyroid963.85
Fetalbrain1468.45
Fetalliver188.8
Fetallung1185.85
GlobusPallidus1058.4
Heart105.05
Hypothalamus1418.55
Kidney482.15
Leukemia_chronicMyelogenousK-562175.05
Leukemia_promyelocytic-HL-603.25
Leukemialymphoblastic(MOLT-4)632.8
Liver220.1
Lung1625.3
Lymphnode437.15
Lymphoma_burkitts(Daudi)4.35
Lymphoma_burkitts(Raji)249.5
MedullaOblongata1087
OccipitalLobe1960.25
OlfactoryBulb1958.65
Ovary234.05
Pancreas544
PancreaticIslet516.45
ParietalLobe1290.3
Pituitary671.4
Placenta996.25
Pons794.55
PrefrontalCortex3134.55
Prostate674.3
Salivarygland494.6
SkeletalMuscle21.85
Skin183.05
SmoothMuscle1308.95
Spinalcord1142.25
SubthalamicNucleus1405.7
SuperiorCervicalGanglion343.4
TemporalLobe977.55
Testis283.45
TestisGermCell847.95
TestisIntersitial259.15
TestisLeydigCell263.5
TestisSeminiferousTubule287.45
Thalamus1512.2
Thymus359.15
Thyroid756.3
Tongue148.5
Tonsil267.15
Trachea348.8
TrigeminalGanglion486.75
Uterus843.4
UterusCorpus76.8
WholeBlood31.05
Wholebrain1472.2
colon1127.7
pineal_day1288.72
pineal_night1311.48
retina2002.25
small_intestine919.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P102523
  • 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
Amygdala10.8 ± 0.32
Basal Forebrain10.32 ± 0.12
Basal Part of Pons10.59 ± 0.36
Cerebellar Cortex10.06 ± 0.22
Cerebellar Nuclei10.24 ± 0.38
Claustrum11.03 ± 0.45
Epithalamus10.2 ± 0.29
Frontal Lobe10.32 ± 0.34
Globus Pallidus10.62 ± 0.21
Hypothalamus9.95 ± 0.34
Insula10.36 ± 0.3
Limbic Lobe10.63 ± 0.29
Mesencephalon10.35 ± 0.37
Myelencephalon10.45 ± 0.31
Occipital Lobe10.72 ± 0.34
Parietal Lobe10.44 ± 0.35
Pontine Tegmentum10.33 ± 0.28
Striatum10.69 ± 0.37
Subthalamus9.9 ± 0.24
Temporal Lobe10.42 ± 0.35
Thalamus10.51 ± 0.3
White Matter10.16 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Spnb2CBCerebellum37.09
48.3
Spnb2CTXCerebral cortex90.37
64.16
Spnb2HIPHippocampal region72.78
100
Spnb2HPFHippocampal formation78.26
94.81
Spnb2HYHypothalamus23.67
17.1
Spnb2LSXLateral septal complex47.92
30.94
Spnb2MBMidbrain33.24
25.71
Spnb2MYMedulla29.42
25.71
Spnb2OLFOlfactory bulb74.88
62.64
Spnb2PPons29.25
24.31
Spnb2PALPallidum29.05
22.35
Spnb2RHPRetrohippocampal region87.47
74.02
Spnb2sAMYStriatum-like amygdalar nuclei61.31
42.24
Spnb2STRStriatum90.15
64.93
Spnb2STRdStriatum dorsal region95.31
69.55
Spnb2STRvStriatum ventral region87.4
61.14
Spnb2THThalamus75.98
59.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000295 13 1369 1381 AELFTQSCADLDK Peptide Atlas
SPTB2_HUMAN_1037 12 1037 1048 LAEISDVWEEMK PRIDE
SPTB2_HUMAN_1123 19 1123 1141 DMGEMVTQGQTDAQYMFLR PRIDE
SPTB2_HUMAN_1162 15 1162 1176 QNLLSQSHAYQQFLR PRIDE
SPTB2_HUMAN_1295 13 1295 1307 MLTAQDMSYDEAR PRIDE
SPTB2_HUMAN_1316 12 1316 1327 HQAFMAELASNK PRIDE
SPTB2_HUMAN_1421 12 1421 1432 KQQMLENQMEVR PRIDE
SPTB2_HUMAN_1422 11 1422 1432 QQMLENQMEVR PRIDE
SPTB2_HUMAN_1467 11 1467 1477 FMELLEPLNER PRIDE
SPTB2_HUMAN_1673 18 1673 1690 QSKVDKLYAGLKDLAEER PRIDE
SPTB2_HUMAN_1862 8 1862 1869 QLQEDAAR PRIDE
SPTB2_HUMAN_1869 16 1869 1884 LQAAYAGDKADDIQKR PRIDE
SPTB2_HUMAN_1933 9 1933 1941 QIEAQEKPR PRIDE
SPTB2_HUMAN_2 23 2 24 TTTVATDYDNIEIQQQYSDVNNR PRIDE
SPTB2_HUMAN_204 11 204 214 DGMAFNALIHK PRIDE
SPTB2_HUMAN_2090 9 2090 2098 QQEEEERKR PRIDE
SPTB2_HUMAN_2141 18 2141 2158 MAETVDTSEMVNGATEQR PRIDE
SPTB2_HUMAN_2192 15 2192 2206 TQETPSAQMEGFLNR PRIDE
SPTB2_HUMAN_417 9 417 425 QEKLEQLAR PRIDE
SPTB2_HUMAN_478 9 478 486 VQAVVAVAR PRIDE
SPTB2_HUMAN_681 33 681 713 AFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEK PRIDE
SPTB2_HUMAN_682 9 682 690 AFEDEMSGR PRIDE
SPTB2_HUMAN_891 14 891 904 FESLEPEMNNQASR PRIDE
SPTB2_HUMAN_914 11 914 924 QLMHSGHPSEK PRIDE
SPTB2_HUMAN_977 20 977 996 VIESTQDLGNDLAGVMALQR PRIDE

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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