AutismKB 2.0

Annotation Detail for ANKFY1


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Basic Information Top
Gene Symbol:ANKFY1 ( ANKHZN,DKFZp686M19106,KIAA1255,ZFYVE14 )
Gene Full Name: ankyrin repeat and FYVE domain containing 1
Band: 17p13.2
Quick LinksEntrez ID:51479; OMIM: 607927; Uniprot ID:ANFY1_HUMAN; ENSEMBL ID: ENSG00000185722; HGNC ID: 20763
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 body7 / 7076198
blastocyst9 / 62319144
fetus40 / 56401270
neonate2 / 3109764
infant1 / 2362042
juvenile5 / 5555689
adult134 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor9 / 26384534
glioma10 / 10688393
head and neck tumor15 / 136302110
kidney tumor5 / 6895972
leukemia6 / 9584262
liver tumor7 / 9635972
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal213 / 336030763
ovarian tumor8 / 76682104
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder2 / 2975767
blood7 / 12347856
bone7 / 7165597
bone marrow0 / 488010 
brain83 / 110098975
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine19 / 23447281
kidney13 / 21177761
larynx0 / 241450 
liver8 / 20774338
lung30 / 33697489
lymph0 / 442700 
lymph node6 / 9161065
mammary gland10 / 15327165
mouth14 / 67052208
muscle4 / 10771537
nerve2 / 15768126
ovary8 / 10205178
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta17 / 28082560
prostate8 / 18934542
salivary gland1 / 2015549
skin3 / 21057414
spleen7 / 53952129
stomach3 / 9661931
testis22 / 33044266
thymus14 / 81131172
thyroid3 / 4747363
tonsil2 / 16999117
trachea6 / 52413114
umbilical cord0 / 136800 
uterus25 / 232878107
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219868_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.55
Adipocyte4.35
AdrenalCortex5.15
Adrenalgland3.7
Amygdala4.65
Appendix4.4
AtrioventricularNode3.35
BDCA4+_DentriticCells4.9
Bonemarrow4.3
BronchialEpithelialCells4.3
CD105+_Endothelial4.5
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.65
CD34+5.6
CD4+_Tcells6.25
CD56+_NKCells5.3
CD71+_EarlyErythroid4.05
CD8+_Tcells8.2
CardiacMyocytes5.6
Caudatenucleus3.95
Cerebellum3.55
CerebellumPeduncles5.05
CiliaryGanglion3.1
CingulateCortex5.4
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.35
FetalThyroid4.3
Fetalbrain4.4
Fetalliver3.8
Fetallung3.65
GlobusPallidus3.15
Heart5.55
Hypothalamus4.8
Kidney3.55
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.55
Liver5.75
Lung4.8
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.55
Lymphoma_burkitts(Raji)6.15
MedullaOblongata4.05
OccipitalLobe3.95
OlfactoryBulb3.45
Ovary2.9
Pancreas3.5
PancreaticIslet4.7
ParietalLobe4.6
Pituitary6
Placenta4.6
Pons4.2
PrefrontalCortex5.75
Prostate5.25
Salivarygland3.55
SkeletalMuscle5.05
Skin3.3
SmoothMuscle5
Spinalcord5.4
SubthalamicNucleus3.9
SuperiorCervicalGanglion5
TemporalLobe4
Testis3.8
TestisGermCell3.7
TestisIntersitial3.7
TestisLeydigCell4.3
TestisSeminiferousTubule3.75
Thalamus4.45
Thymus3.55
Thyroid5.55
Tongue4.3
Tonsil4.3
Trachea3.7
TrigeminalGanglion4.35
Uterus3.65
UterusCorpus4.15
WholeBlood4.85
Wholebrain3.75
colon4.4
pineal_day5.5
pineal_night5.4
retina6.425
small_intestine4.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9886_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
Amygdala3.83 ± 0.76
Basal Forebrain3.7 ± 0.5
Basal Part of Pons3.64 ± 0.63
Cerebellar Cortex3.89 ± 0.47
Cerebellar Nuclei3.86 ± 0.7
Claustrum3.68 ± 0.81
Epithalamus4.05 ± 0.58
Frontal Lobe3.73 ± 0.6
Globus Pallidus4.28 ± 0.46
Hypothalamus3.48 ± 0.61
Insula3.33 ± 0.54
Limbic Lobe3.7 ± 0.55
Mesencephalon3.94 ± 0.62
Myelencephalon3.86 ± 0.55
Occipital Lobe4.06 ± 0.44
Parietal Lobe3.76 ± 0.56
Pontine Tegmentum3.78 ± 0.56
Striatum3.8 ± 0.58
Subthalamus4.03 ± 0.28
Temporal Lobe3.77 ± 0.52
Thalamus3.76 ± 0.52
White Matter4.94 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ankfy1CBCerebellum10.06
10.54
Ankfy1CTXCerebral cortex16.98
11.55
Ankfy1HIPHippocampal region14.01
12.2
Ankfy1HPFHippocampal formation17.55
13.72
Ankfy1HYHypothalamus7.44
4.97
Ankfy1LSXLateral septal complex4.3
2.59
Ankfy1MBMidbrain8.93
7.22
Ankfy1MYMedulla19.6
17.39
Ankfy1OLFOlfactory bulb20.93
15.4
Ankfy1PPons12.77
11.55
Ankfy1PALPallidum9.32
6.43
Ankfy1RHPRetrohippocampal region25.17
16.92
Ankfy1sAMYStriatum-like amygdalar nuclei8.39
4.85
Ankfy1STRStriatum7.36
4.88
Ankfy1STRdStriatum dorsal region6.79
4.97
Ankfy1STRvStriatum ventral region12.21
6.88
Ankfy1THThalamus7.22
4.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ANFY1_HUMAN_756 13 756 768 QPGANGEGEEEAR PRIDE
PAp00068901 18 447 464 GSHTDAPDTATGNCLLQR 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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