AutismKB 2.0

Annotation Detail for CYFIP1


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Basic Information Top
Gene Symbol:CYFIP1 ( FLJ45151,P140SRA-1,SHYC,SRA1 )
Gene Full Name: cytoplasmic FMR1 interacting protein 1
Band: 15q11.2
Quick LinksEntrez ID:23191; OMIM: 606322; Uniprot ID:CYFP1_HUMAN; ENSEMBL ID: ENSG00000068793; HGNC ID: 13759
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 body12 / 70761169
blastocyst8 / 62319128
fetus87 / 564012154
neonate5 / 31097160
infant1 / 2362042
juvenile6 / 55556107
adult220 / 1939121113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor14 / 94178148
cervical tumor2 / 3436658
chondrosarcoma13 / 82823156
colorectal tumor19 / 114246166
esophageal tumor0 / 172900 
gastrointestinal tumor22 / 119369184
germ cell tumor36 / 263845136
glioma9 / 10688384
head and neck tumor30 / 136302220
kidney tumor7 / 68959101
leukemia8 / 9584283
liver tumor11 / 96359114
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal367 / 3360307109
ovarian tumor8 / 76682104
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer17 / 102680165
retinoblastoma1 / 4635621
skin tumor26 / 124949208
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites6 / 40015149
bladder3 / 29757100
blood7 / 12347856
bone25 / 71655348
bone marrow2 / 4880140
brain153 / 1100989138
cervix6 / 48171124
connective tissue18 / 149255120
ear3 / 16212185
embryonic tissue26 / 215722120
esophagus0 / 202090 
eye21 / 21105499
heart5 / 8962655
intestine37 / 234472157
kidney27 / 211777127
larynx3 / 24145124
liver15 / 20774372
lung36 / 336974106
lymph0 / 442700 
lymph node2 / 9161021
mammary gland21 / 153271137
mouth26 / 67052387
muscle5 / 10771546
nerve2 / 15768126
ovary14 / 102051137
pancreas24 / 214812111
parathyroid6 / 20539292
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta27 / 28082596
prostate26 / 189345137
salivary gland0 / 201550 
skin39 / 210574185
spleen1 / 5395218
stomach10 / 96619103
testis38 / 330442114
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea14 / 52413267
umbilical cord0 / 136800 
uterus22 / 23287894
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208923_at
Cell line Expression level Expression bar
721_B_lymphoblasts494.8
Adipocyte163.9
AdrenalCortex31.6
Adrenalgland181.05
Amygdala437.35
Appendix59.6
AtrioventricularNode16
BDCA4+_DentriticCells265.3
Bonemarrow47.15
BronchialEpithelialCells727.8
CD105+_Endothelial85.45
CD14+_Monocytes618.95
CD19+_BCells(neg._sel.)18.3
CD33+_Myeloid861.2
CD34+530.2
CD4+_Tcells17.55
CD56+_NKCells50.3
CD71+_EarlyErythroid12.6
CD8+_Tcells6.5
CardiacMyocytes193.3
Caudatenucleus123.2
Cerebellum95.75
CerebellumPeduncles53.55
CiliaryGanglion16.95
CingulateCortex46.5
Colorectaladenocarcinoma290.9
DorsalRootGanglion14.85
FetalThyroid245.7
Fetalbrain282.5
Fetalliver175.75
Fetallung319.4
GlobusPallidus18.25
Heart60.6
Hypothalamus296.1
Kidney119.8
Leukemia_chronicMyelogenousK-562169.55
Leukemia_promyelocytic-HL-606.9
Leukemialymphoblastic(MOLT-4)9.55
Liver233.1
Lung954.65
Lymphnode165.45
Lymphoma_burkitts(Daudi)13.7
Lymphoma_burkitts(Raji)9
MedullaOblongata56.4
OccipitalLobe142.85
OlfactoryBulb184.3
Ovary82.6
Pancreas101.25
PancreaticIslet231.35
ParietalLobe43.95
Pituitary81.4
Placenta454.35
Pons13.8
PrefrontalCortex200.1
Prostate1039.15
Salivarygland118.05
SkeletalMuscle10.05
Skin20.85
SmoothMuscle345.45
Spinalcord349.45
SubthalamicNucleus32.5
SuperiorCervicalGanglion29.8
TemporalLobe68.4
Testis119.4
TestisGermCell112.1
TestisIntersitial38
TestisLeydigCell35.65
TestisSeminiferousTubule29.6
Thalamus159.55
Thymus104.4
Thyroid745.75
Tongue109.7
Tonsil99.25
Trachea287.9
TrigeminalGanglion17.85
Uterus612.4
UterusCorpus86.8
WholeBlood137.8
Wholebrain342.45
colon644.05
pineal_day123.3
pineal_night73.66
retina543.25
small_intestine599.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4805_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
Amygdala6.15 ± 0.72
Basal Forebrain6.44 ± 0.27
Basal Part of Pons6.72 ± 0.11
Cerebellar Cortex5.97 ± 0.21
Cerebellar Nuclei6.76 ± 0.16
Claustrum6.08 ± 0.35
Epithalamus6.79 ± 0.16
Frontal Lobe6.24 ± 0.32
Globus Pallidus7.16 ± 0.14
Hypothalamus6.27 ± 0.44
Insula6.33 ± 0.35
Limbic Lobe6.23 ± 0.25
Mesencephalon6.29 ± 0.37
Myelencephalon6.33 ± 0.38
Occipital Lobe6.66 ± 0.41
Parietal Lobe6.4 ± 0.36
Pontine Tegmentum6.2 ± 0.4
Striatum6.35 ± 0.38
Subthalamus6.25 ± 0.36
Temporal Lobe6.33 ± 0.31
Thalamus6.47 ± 0.26
White Matter6.6 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cyfip1CBCerebellum1.39
2.36
Cyfip1CTXCerebral cortex0.56
0.61
Cyfip1HIPHippocampal region10.26
13.55
Cyfip1HPFHippocampal formation5.83
7.07
Cyfip1HYHypothalamus0.17
0.21
Cyfip1LSXLateral septal complex2.71
1.74
Cyfip1MBMidbrain0.4
0.55
Cyfip1MYMedulla0.39
0.46
Cyfip1OLFOlfactory bulb0.78
0.73
Cyfip1PPons0.45
0.71
Cyfip1PALPallidum0.13
0.11
Cyfip1RHPRetrohippocampal region0.88
0.86
Cyfip1sAMYStriatum-like amygdalar nuclei0.24
0.19
Cyfip1STRStriatum0.29
0.21
Cyfip1STRdStriatum dorsal region0.06
0.05
Cyfip1STRvStriatum ventral region0.18
0.13
Cyfip1THThalamus0.34
0.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CYFP1_HUMAN_0 0 0 0 FINMFAVLDELK PRIDE
CYFP1_HUMAN_0 0 0 0 TVEVLEPEVTK PRIDE
CYFP1_HUMAN_1053 12 1053 1064 YAPLHLVPLIER PRIDE
CYFP1_HUMAN_163 12 163 174 FINMFAVLDELK PRIDE
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


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