AutismKB 2.0

Annotation Detail for CYFIP2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CYFIP2 ( PIR121 )
Gene Full Name: cytoplasmic FMR1 interacting protein 2
Band: 5q33.3
Quick LinksEntrez ID:26999; OMIM: 606323; Uniprot ID:CYFP2_HUMAN; ENSEMBL ID: ENSG00000055163; HGNC ID: 13760
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 body11 / 70761155
blastocyst8 / 62319128
fetus81 / 564012143
neonate4 / 31097128
infant5 / 23620211
juvenile10 / 55556179
adult160 / 193912182
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor62 / 263845234
glioma6 / 10688356
head and neck tumor7 / 13630251
kidney tumor7 / 68959101
leukemia34 / 95842354
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma38 / 71755529
non-neoplasia7 / 9725071
normal602 / 3360307179
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma10 / 46356215
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood30 / 123478242
bone1 / 7165513
bone marrow5 / 48801102
brain420 / 1100989381
cervix3 / 4817162
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus0 / 202090 
eye25 / 211054118
heart5 / 8962655
intestine17 / 23447272
kidney36 / 211777169
larynx0 / 241450 
liver10 / 20774348
lung14 / 33697441
lymph30 / 44270677
lymph node49 / 91610534
mammary gland4 / 15327126
mouth3 / 6705244
muscle2 / 10771518
nerve2 / 15768126
ovary8 / 10205178
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta7 / 28082524
prostate6 / 18934531
salivary gland0 / 201550 
skin2 / 2105749
spleen3 / 5395255
stomach1 / 9661910
testis38 / 330442114
thymus37 / 81131456
thyroid3 / 4747363
tonsil7 / 16999411
trachea0 / 524130 
umbilical cord7 / 13680511
uterus11 / 23287847
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220999_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts206.25
Adipocyte11.25
AdrenalCortex15.25
Adrenalgland29.55
Amygdala738.15
Appendix33.5
AtrioventricularNode15.4
BDCA4+_DentriticCells92.75
Bonemarrow28
BronchialEpithelialCells10.15
CD105+_Endothelial11.95
CD14+_Monocytes23
CD19+_BCells(neg._sel.)277.25
CD33+_Myeloid18.55
CD34+68.25
CD4+_Tcells423.3
CD56+_NKCells384.65
CD71+_EarlyErythroid10.8
CD8+_Tcells327.3
CardiacMyocytes16.25
Caudatenucleus145.4
Cerebellum241.15
CerebellumPeduncles162.55
CiliaryGanglion18.25
CingulateCortex228.3
Colorectaladenocarcinoma10.8
DorsalRootGanglion29.55
FetalThyroid13.65
Fetalbrain137.75
Fetalliver17.3
Fetallung9.6
GlobusPallidus103.2
Heart17.2
Hypothalamus183.3
Kidney203.85
Leukemia_chronicMyelogenousK-56210.55
Leukemia_promyelocytic-HL-6030.2
Leukemialymphoblastic(MOLT-4)118.1
Liver28.55
Lung15.4
Lymphnode45.55
Lymphoma_burkitts(Daudi)121.2
Lymphoma_burkitts(Raji)16.7
MedullaOblongata119.15
OccipitalLobe117.4
OlfactoryBulb9.45
Ovary11.1
Pancreas9.2
PancreaticIslet14.75
ParietalLobe138.25
Pituitary71.4
Placenta11.6
Pons126.25
PrefrontalCortex493.25
Prostate18.4
Salivarygland13.3
SkeletalMuscle26.1
Skin15.75
SmoothMuscle12.25
Spinalcord60.45
SubthalamicNucleus116.4
SuperiorCervicalGanglion26.75
TemporalLobe90.95
Testis9.6
TestisGermCell9.25
TestisIntersitial9.9
TestisLeydigCell12.1
TestisSeminiferousTubule9.6
Thalamus251.8
Thymus80.1
Thyroid16.95
Tongue15.2
Tonsil56.75
Trachea14.7
TrigeminalGanglion20.95
Uterus8.2
UterusCorpus14.7
WholeBlood51.3
Wholebrain198.05
colon10.9
pineal_day656.44
pineal_night516.72
retina26.175
small_intestine10.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P156117
  • 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
Amygdala11.51 ± 0.42
Basal Forebrain11.01 ± 0.15
Basal Part of Pons11.77 ± 0.12
Cerebellar Cortex11.34 ± 0.17
Cerebellar Nuclei11.12 ± 0.52
Claustrum11.41 ± 0.21
Epithalamus10.47 ± 0.54
Frontal Lobe11.45 ± 0.36
Globus Pallidus10.22 ± 0.35
Hypothalamus11.03 ± 0.21
Insula11.47 ± 0.3
Limbic Lobe11.64 ± 0.42
Mesencephalon11.17 ± 0.36
Myelencephalon11.28 ± 0.45
Occipital Lobe11.21 ± 0.35
Parietal Lobe11.46 ± 0.36
Pontine Tegmentum11.32 ± 0.33
Striatum11.42 ± 0.46
Subthalamus11.39 ± 0.09
Temporal Lobe11.53 ± 0.33
Thalamus11.53 ± 0.36
White Matter9.54 ± 0.28
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001224 13 98 110 CNEQPNRVEIYEK 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