AutismKB 2.0

Annotation Detail for ANXA6


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Basic Information Top
Gene Symbol:ANXA6 ( ANX6,CBP68 )
Gene Full Name: annexin A6
Band: 5q33.1
Quick LinksEntrez ID:309; OMIM: 114070; Uniprot ID:ANXA6_HUMAN; ENSEMBL ID: ENSG00000197043; HGNC ID: 544
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 body13 / 70761183
blastocyst7 / 62319112
fetus75 / 564012132
neonate32 / 310971029
infant7 / 23620296
juvenile30 / 55556539
adult374 / 1939121192
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor14 / 94178148
cervical tumor3 / 3436687
chondrosarcoma15 / 82823181
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor15 / 119369125
germ cell tumor47 / 263845178
glioma24 / 106883224
head and neck tumor12 / 13630288
kidney tumor29 / 68959420
leukemia34 / 95842354
liver tumor10 / 96359103
lung tumor5 / 10312748
lymphoma10 / 71755139
non-neoplasia22 / 97250226
normal922 / 3360307274
ovarian tumor9 / 76682117
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS41 / 125680326
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland6 / 33197180
ascites7 / 40015174
bladder2 / 2975767
blood46 / 123478372
bone13 / 71655181
bone marrow59 / 488011208
brain330 / 1100989299
cervix6 / 48171124
connective tissue34 / 149255227
ear0 / 162120 
embryonic tissue39 / 215722180
esophagus4 / 20209197
eye35 / 211054165
heart30 / 89626334
intestine36 / 234472153
kidney99 / 211777467
larynx2 / 2414582
liver20 / 20774396
lung35 / 336974103
lymph6 / 44270135
lymph node20 / 91610218
mammary gland21 / 153271137
mouth20 / 67052298
muscle18 / 107715167
nerve11 / 15768697
ovary13 / 102051127
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx16 / 41328387
pituitary gland5 / 16585301
placenta77 / 280825274
prostate35 / 189345184
salivary gland0 / 201550 
skin70 / 210574332
spleen39 / 53952722
stomach14 / 96619144
testis43 / 330442130
thymus32 / 81131394
thyroid11 / 47473231
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus54 / 232878231
vascular23 / 51780444
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200982_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1182.9
Adipocyte584.9
AdrenalCortex78.05
Adrenalgland131.9
Amygdala115.45
Appendix79.2
AtrioventricularNode63.5
BDCA4+_DentriticCells463.15
Bonemarrow231.5
BronchialEpithelialCells76.05
CD105+_Endothelial34.3
CD14+_Monocytes345.65
CD19+_BCells(neg._sel.)1240.5
CD33+_Myeloid546.5
CD34+200.8
CD4+_Tcells664.6
CD56+_NKCells1427.75
CD71+_EarlyErythroid13.8
CD8+_Tcells684.85
CardiacMyocytes312.05
Caudatenucleus170
Cerebellum121.45
CerebellumPeduncles89.25
CiliaryGanglion81.7
CingulateCortex208.75
Colorectaladenocarcinoma760.1
DorsalRootGanglion96.25
FetalThyroid107.15
Fetalbrain64.7
Fetalliver69.3
Fetallung199.7
GlobusPallidus104
Heart487.95
Hypothalamus328.9
Kidney92.25
Leukemia_chronicMyelogenousK-56241.05
Leukemia_promyelocytic-HL-6037.15
Leukemialymphoblastic(MOLT-4)136.1
Liver623.8
Lung295.6
Lymphnode220.5
Lymphoma_burkitts(Daudi)47.6
Lymphoma_burkitts(Raji)449.45
MedullaOblongata200.3
OccipitalLobe109.45
OlfactoryBulb76.05
Ovary123.65
Pancreas69.5
PancreaticIslet206.3
ParietalLobe166.6
Pituitary648.6
Placenta508.8
Pons106.05
PrefrontalCortex223.2
Prostate154.55
Salivarygland50.6
SkeletalMuscle147.15
Skin68.1
SmoothMuscle856.05
Spinalcord138.1
SubthalamicNucleus135.4
SuperiorCervicalGanglion49.25
TemporalLobe198.7
Testis120.3
TestisGermCell92.75
TestisIntersitial46.95
TestisLeydigCell63.25
TestisSeminiferousTubule63.85
Thalamus279.7
Thymus485.95
Thyroid140.65
Tongue82.3
Tonsil236.6
Trachea63.15
TrigeminalGanglion104
Uterus100
UterusCorpus142.9
WholeBlood489.9
Wholebrain528.9
colon60.9
pineal_day325.86
pineal_night325.78
retina209.75
small_intestine109.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15233_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
Amygdala7.68 ± 0.39
Basal Forebrain7.48 ± 0.38
Basal Part of Pons8.73 ± 0.18
Cerebellar Cortex7.88 ± 0.3
Cerebellar Nuclei8.29 ± 0.39
Claustrum7.91 ± 0.3
Epithalamus7.52 ± 0.32
Frontal Lobe8.27 ± 0.47
Globus Pallidus7.4 ± 0.45
Hypothalamus7.96 ± 0.28
Insula8.09 ± 0.17
Limbic Lobe8.08 ± 0.41
Mesencephalon7.95 ± 0.48
Myelencephalon8.07 ± 0.51
Occipital Lobe8.04 ± 0.44
Parietal Lobe8.22 ± 0.45
Pontine Tegmentum8.08 ± 0.45
Striatum7.86 ± 0.52
Subthalamus8.32 ± 0.33
Temporal Lobe8.24 ± 0.36
Thalamus8.39 ± 0.37
White Matter6.08 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Anxa6CBCerebellum32.93
100
Anxa6CTXCerebral cortex100
100
Anxa6HIPHippocampal region100
100
Anxa6HPFHippocampal formation100
100
Anxa6HYHypothalamus73.56
61.42
Anxa6LSXLateral septal complex41.11
27.98
Anxa6MBMidbrain69.51
78.47
Anxa6MYMedulla87.56
100
Anxa6OLFOlfactory bulb99.66
100
Anxa6PPons72.19
100
Anxa6PALPallidum73.95
79.32
Anxa6RHPRetrohippocampal region100
95.94
Anxa6sAMYStriatum-like amygdalar nuclei79.63
61.79
Anxa6STRStriatum100
79.06
Anxa6STRdStriatum dorsal region100
90.03
Anxa6STRvStriatum ventral region99.18
66.72
Anxa6THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ANXA6_HUMAN_0 0 0 0 GLGTDEDTIIDIITHR PRIDE
ANXA6_HUMAN_1 10 1 10 AKPAQGAKYR PRIDE
ANXA6_HUMAN_101 21 101 121 KDAISGIGTDEKCLIEILASR PRIDE
ANXA6_HUMAN_102 20 102 121 DAISGIGTDEKCLIEILASR PRIDE
ANXA6_HUMAN_11 23 11 33 GSIHDFPGFDPNQDAEALYTAMK PRIDE
ANXA6_HUMAN_11 39 11 49 GSIHDFPGFDPNQDAEALYTAMKGFGSDKEAILDIITSR PRIDE
ANXA6_HUMAN_113 9 113 121 CLIEILASR PRIDE
ANXA6_HUMAN_122 13 122 134 TNEQMHQLVAAYK PRIDE
ANXA6_HUMAN_122 18 122 139 TNEQMHQLVAAYKDAYER PRIDE
ANXA6_HUMAN_122 34 122 155 TNEQMHQLVAAYKDAYERDLEADIIGDTSGHFQK PRIDE
ANXA6_HUMAN_135 21 135 155 DAYERDLEADIIGDTSGHFQK PRIDE
ANXA6_HUMAN_140 16 140 155 DLEADIIGDTSGHFQK PRIDE
ANXA6_HUMAN_156 10 156 165 MLVVLLQGTR PRIDE
ANXA6_HUMAN_191 15 191 205 WGTDEAQFIYILGNR PRIDE
ANXA6_HUMAN_212 8 212 219 LVFDEYLK PRIDE
ANXA6_HUMAN_231 16 231 246 GELSGDFEKLMLAVVK PRIDE
ANXA6_HUMAN_231 19 231 249 GELSGDFEKLMLAVVKCIR PRIDE
ANXA6_HUMAN_281 9 281 289 SELDMLDIR PRIDE
ANXA6_HUMAN_319 31 319 349 LSGGDDDAAGQFFPEAAQVAYQMWELSAVAR PRIDE
ANXA6_HUMAN_34 16 34 49 GFGSDKEAILDIITSR PRIDE
ANXA6_HUMAN_35 16 35 50 GFGSDKEAILDIITSR PRIDE
ANXA6_HUMAN_350 20 350 369 VELKGTVRPANDFNPDADAK PRIDE
ANXA6_HUMAN_354 16 354 369 GTVRPANDFNPDADAK PRIDE
ANXA6_HUMAN_358 15 358 372 PANDFNPDADAKALR PRIDE
ANXA6_HUMAN_377 16 377 392 GLGTDEDTIIDIITHR PRIDE
ANXA6_HUMAN_378 16 378 393 GLGTDEDTIIDIITHR PRIDE
ANXA6_HUMAN_40 10 40 49 EAILDIITSR PRIDE
ANXA6_HUMAN_402 9 402 410 QTFKSHFGR PRIDE
ANXA6_HUMAN_411 16 411 426 DLMTDLKSEISGDLAR PRIDE
ANXA6_HUMAN_427 15 427 441 LILGLMMPPAHYDAK PRIDE
ANXA6_HUMAN_446 10 446 455 AMEGAGTDEK PRIDE
ANXA6_HUMAN_446 19 446 464 AMEGAGTDEKALIEILATR PRIDE
ANXA6_HUMAN_446 25 446 470 AMEGAGTDEKALIEILATRTNAEIR PRIDE
ANXA6_HUMAN_456 9 456 464 ALIEILATR PRIDE
ANXA6_HUMAN_457 9 457 465 ALIEILATR PRIDE
ANXA6_HUMAN_471 27 471 497 AINEAYKEDYHKSLEDALSSDTSGHFR PRIDE
ANXA6_HUMAN_483 15 483 497 SLEDALSSDTSGHFR PRIDE
ANXA6_HUMAN_483 16 483 498 SLEDALSSDTSGHFRR PRIDE
ANXA6_HUMAN_484 15 484 498 SLEDALSSDTSGHFR PRIDE
ANXA6_HUMAN_498 22 498 519 RILISLATGHREEGGENLDQAR PRIDE
ANXA6_HUMAN_499 21 499 519 ILISLATGHREEGGENLDQAR PRIDE
ANXA6_HUMAN_520 26 520 545 EDAQVAAEILEIADTPSGDKTSLETR PRIDE
ANXA6_HUMAN_546 8 546 553 FMTILCTR PRIDE
ANXA6_HUMAN_554 6 554 559 SYPHLR PRIDE
ANXA6_HUMAN_560 8 560 567 RVFQEFIK PRIDE
ANXA6_HUMAN_561 7 561 567 VFQEFIK PRIDE
ANXA6_HUMAN_568 11 568 578 MTNYDVEHTIK PRIDE
ANXA6_HUMAN_568 12 568 579 MTNYDVEHTIKK PRIDE
ANXA6_HUMAN_580 18 580 597 EMSGDVRDAFVAIVQSVK PRIDE
ANXA6_HUMAN_587 11 587 597 DAFVAIVQSVK PRIDE
ANXA6_HUMAN_598 12 598 609 NKPLFFADKLYK PRIDE
ANXA6_HUMAN_629 10 629 638 SEIDLLNIRR PRIDE
ANXA6_HUMAN_629 9 629 637 SEIDLLNIR PRIDE
ANXA6_HUMAN_63 18 63 80 SLYGKDLIADLKYELTGK PRIDE
ANXA6_HUMAN_630 9 630 638 SEIDLLNIR PRIDE
ANXA6_HUMAN_647 16 647 662 SLHQAIEGDTSGDFLK PRIDE
ANXA6_HUMAN_648 16 648 663 SLHQAIEGDTSGDFLK PRIDE
ANXA6_HUMAN_68 13 68 80 DLIADLKYELTGK PRIDE
ANXA6_HUMAN_68 16 68 83 DLIADLKYELTGKFER PRIDE
ANXA6_HUMAN_75 9 75 83 YELTGKFER PRIDE
ANXA6_HUMAN_84 15 84 98 LIVGLMRPPAYCDAK PRIDE
ANXA6_HUMAN_9 25 9 33 YRGSIHDFPGFDPNQDAEALYTAMK PRIDE
ANXA6_HUMAN_99 14 99 112 EIKDAISGIGTDEK PRIDE
ANXA6_HUMAN_99 23 99 121 EIKDAISGIGTDEKCLIEILASR PRIDE
PAp00001152 9 114 122 CLIEILASR 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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