AutismKB 2.0

Annotation Detail for ABCF1


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Basic Information Top
Gene Symbol:ABCF1 ( ABC27,ABC50 )
Gene Full Name: ATP-binding cassette, sub-family F (GCN20), member 1
Band: 6p21.33
Quick LinksEntrez ID:23; OMIM: 603429; Uniprot ID:ABCF1_HUMAN; ENSEMBL ID: ENSG00000204574; HGNC ID: 70
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 body9 / 70761127
blastocyst9 / 62319144
fetus23 / 56401240
neonate1 / 3109732
infant1 / 2362042
juvenile3 / 5555653
adult195 / 1939121100
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) tumor13 / 94178138
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor14 / 114246122
esophageal tumor2 / 17290115
gastrointestinal tumor44 / 119369368
germ cell tumor9 / 26384534
glioma6 / 10688356
head and neck tumor9 / 13630266
kidney tumor11 / 68959159
leukemia8 / 9584283
liver tumor9 / 9635993
lung tumor26 / 103127252
lymphoma28 / 71755390
non-neoplasia1 / 9725010
normal181 / 336030753
ovarian tumor12 / 76682156
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer10 / 10268097
retinoblastoma7 / 46356151
skin tumor15 / 124949120
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder2 / 2975767
blood11 / 12347889
bone3 / 7165541
bone marrow4 / 4880181
brain32 / 110098929
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus2 / 2020998
eye19 / 21105490
heart2 / 8962622
intestine19 / 23447281
kidney14 / 21177766
larynx2 / 2414582
liver25 / 207743120
lung40 / 336974118
lymph26 / 44270587
lymph node11 / 91610120
mammary gland22 / 153271143
mouth0 / 670520 
muscle10 / 10771592
nerve1 / 1576863
ovary15 / 102051146
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate14 / 18934573
salivary gland2 / 2015599
skin19 / 21057490
spleen2 / 5395237
stomach39 / 96619403
testis13 / 33044239
thymus2 / 8113124
thyroid7 / 47473147
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus28 / 232878120
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200045_at
Cell line Expression level Expression bar
721_B_lymphoblasts403.45
Adipocyte23.9
AdrenalCortex19.25
Adrenalgland19.05
Amygdala18.55
Appendix18.15
AtrioventricularNode12.35
BDCA4+_DentriticCells58.3
Bonemarrow19.25
BronchialEpithelialCells27.55
CD105+_Endothelial71.85
CD14+_Monocytes29.15
CD19+_BCells(neg._sel.)44.6
CD33+_Myeloid44.7
CD34+159.1
CD4+_Tcells99.95
CD56+_NKCells139
CD71+_EarlyErythroid23.9
CD8+_Tcells126
CardiacMyocytes22.35
Caudatenucleus17.25
Cerebellum27.9
CerebellumPeduncles19.2
CiliaryGanglion12.15
CingulateCortex18.6
Colorectaladenocarcinoma25.6
DorsalRootGanglion14.45
FetalThyroid22.8
Fetalbrain20.95
Fetalliver18.35
Fetallung20.85
GlobusPallidus13.15
Heart19.2
Hypothalamus24.5
Kidney21
Leukemia_chronicMyelogenousK-56256.05
Leukemia_promyelocytic-HL-6031.2
Leukemialymphoblastic(MOLT-4)33.1
Liver25.5
Lung28.4
Lymphnode20.95
Lymphoma_burkitts(Daudi)46.15
Lymphoma_burkitts(Raji)63.95
MedullaOblongata16.9
OccipitalLobe17.75
OlfactoryBulb17.95
Ovary13.95
Pancreas16.6
PancreaticIslet31
ParietalLobe18.75
Pituitary21.35
Placenta59.25
Pons14.3
PrefrontalCortex21.6
Prostate23.85
Salivarygland16.2
SkeletalMuscle19.4
Skin11.95
SmoothMuscle32.95
Spinalcord22.65
SubthalamicNucleus13.8
SuperiorCervicalGanglion18.95
TemporalLobe15.15
Testis50.15
TestisGermCell32.85
TestisIntersitial29.35
TestisLeydigCell24.45
TestisSeminiferousTubule26.4
Thalamus21.35
Thymus46.4
Thyroid34.1
Tongue16.85
Tonsil20.8
Trachea20.75
TrigeminalGanglion16.4
Uterus17.25
UterusCorpus20.75
WholeBlood26.45
Wholebrain27.35
colon20.1
pineal_day25.64
pineal_night19.16
retina29.975
small_intestine27.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P4495
  • 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
Amygdala2.55 ± 1.05
Basal Forebrain1.92 ± 0.28
Basal Part of Pons1.6 ± 0.37
Cerebellar Cortex2.13 ± 0.79
Cerebellar Nuclei2.28 ± 0.78
Claustrum2.66 ± 0.73
Epithalamus1.6 ± 0.83
Frontal Lobe1.97 ± 0.72
Globus Pallidus2.08 ± 0.45
Hypothalamus1.96 ± 0.7
Insula1.89 ± 0.63
Limbic Lobe1.88 ± 0.71
Mesencephalon2.19 ± 0.7
Myelencephalon2.06 ± 0.69
Occipital Lobe1.9 ± 0.84
Parietal Lobe2.02 ± 0.83
Pontine Tegmentum2.1 ± 0.87
Striatum2 ± 0.69
Subthalamus2.5 ± 0.23
Temporal Lobe2 ± 0.76
Thalamus2.03 ± 0.72
White Matter1.98 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abcf1CBCerebellum20.63
25.06
Abcf1CTXCerebral cortex66.56
54.53
Abcf1HIPHippocampal region34.08
48.76
Abcf1HPFHippocampal formation38.9
44.5
Abcf1HYHypothalamus17.63
14.17
Abcf1LSXLateral septal complex5.25
3.7
Abcf1MBMidbrain18.05
18.31
Abcf1MYMedulla32.11
39.29
Abcf1OLFOlfactory bulb50.73
42.95
Abcf1PPons25.33
29.8
Abcf1PALPallidum27.57
26.88
Abcf1RHPRetrohippocampal region49.94
40.91
Abcf1sAMYStriatum-like amygdalar nuclei31.84
23.74
Abcf1STRStriatum34.21
25.15
Abcf1STRdStriatum dorsal region37.05
27.18
Abcf1STRvStriatum ventral region39.43
28.46
Abcf1THThalamus43.71
39.9
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ABCF1_HUMAN_830 15 830 844 EVLEALGEVMVSRPR PRIDE
PAp00002416 14 729 742 FGLESHAHTIQICK 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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