AutismKB 2.0

Annotation Detail for ABCF2


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Basic Information Top
Gene Symbol:ABCF2 ( ABC28,DKFZp586K1823,EST133090,HUSSY18,M-ABC1 )
Gene Full Name: ATP-binding cassette, sub-family F (GCN20), member 2
Band: 7q36.1
Quick LinksEntrez ID:10061; OMIM: 612510; Uniprot ID:ABCF2_HUMAN; ENSEMBL ID: ENSG00000033050; HGNC ID: 71
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
blastocyst11 / 62319176
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult97 / 193912150
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) tumor9 / 9417895
cervical tumor1 / 3436629
chondrosarcoma14 / 82823169
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor16 / 119369134
germ cell tumor13 / 26384549
glioma6 / 10688356
head and neck tumor5 / 13630236
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor9 / 9635993
lung tumor12 / 103127116
lymphoma25 / 71755348
non-neoplasia3 / 9725030
normal113 / 336030733
ovarian tumor9 / 76682117
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer14 / 102680136
retinoblastoma3 / 4635664
skin tumor31 / 124949248
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites10 / 40015249
bladder0 / 297570 
blood8 / 12347864
bone6 / 7165583
bone marrow2 / 4880140
brain30 / 110098927
cervix1 / 4817120
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus1 / 2020949
eye15 / 21105471
heart1 / 8962611
intestine18 / 23447276
kidney5 / 21177723
larynx2 / 2414582
liver11 / 20774352
lung25 / 33697474
lymph23 / 44270519
lymph node2 / 9161021
mammary gland10 / 15327165
mouth0 / 670520 
muscle10 / 10771592
nerve3 / 15768190
ovary11 / 102051107
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate15 / 18934579
salivary gland2 / 2015599
skin33 / 210574156
spleen2 / 5395237
stomach2 / 9661920
testis15 / 33044245
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207622_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts116.7
Adipocyte12.65
AdrenalCortex18.2
Adrenalgland6.4
Amygdala8
Appendix11.45
AtrioventricularNode7.95
BDCA4+_DentriticCells39.1
Bonemarrow10.6
BronchialEpithelialCells26.25
CD105+_Endothelial34.75
CD14+_Monocytes32.05
CD19+_BCells(neg._sel.)12.35
CD33+_Myeloid42.65
CD34+38.25
CD4+_Tcells58.1
CD56+_NKCells40
CD71+_EarlyErythroid14
CD8+_Tcells49.7
CardiacMyocytes25.75
Caudatenucleus9.85
Cerebellum8.55
CerebellumPeduncles14.25
CiliaryGanglion5.65
CingulateCortex10.9
Colorectaladenocarcinoma47.5
DorsalRootGanglion7.4
FetalThyroid7.8
Fetalbrain8.45
Fetalliver6.9
Fetallung8.05
GlobusPallidus8.3
Heart19
Hypothalamus12.35
Kidney6.55
Leukemia_chronicMyelogenousK-56224.6
Leukemia_promyelocytic-HL-6015.6
Leukemialymphoblastic(MOLT-4)35.45
Liver14.25
Lung24.6
Lymphnode12.45
Lymphoma_burkitts(Daudi)23.2
Lymphoma_burkitts(Raji)19.75
MedullaOblongata9.35
OccipitalLobe14
OlfactoryBulb7.5
Ovary5.7
Pancreas8.45
PancreaticIslet8
ParietalLobe17.35
Pituitary10.4
Placenta13.6
Pons11.25
PrefrontalCortex19.75
Prostate9.8
Salivarygland6.25
SkeletalMuscle16.05
Skin7.2
SmoothMuscle83.4
Spinalcord10.85
SubthalamicNucleus13.4
SuperiorCervicalGanglion11.6
TemporalLobe13.55
Testis7.75
TestisGermCell10.6
TestisIntersitial9.7
TestisLeydigCell10.75
TestisSeminiferousTubule8.6
Thalamus22.1
Thymus9.25
Thyroid12.65
Tongue11.15
Tonsil9
Trachea6.15
TrigeminalGanglion11.8
Uterus7.05
UterusCorpus7.4
WholeBlood7.45
Wholebrain10.65
colon10.7
pineal_day36.84
pineal_night33.46
retina26.5
small_intestine10.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15809_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
Amygdala5.56 ± 0.36
Basal Forebrain5.43 ± 0.48
Basal Part of Pons5.8 ± 0.3
Cerebellar Cortex5.26 ± 0.29
Cerebellar Nuclei5.55 ± 0.39
Claustrum5.65 ± 0.41
Epithalamus5.03 ± 0.45
Frontal Lobe5.53 ± 0.35
Globus Pallidus5.95 ± 0.18
Hypothalamus5.47 ± 0.31
Insula5.43 ± 0.34
Limbic Lobe5.64 ± 0.45
Mesencephalon5.55 ± 0.42
Myelencephalon5.54 ± 0.38
Occipital Lobe5.84 ± 0.38
Parietal Lobe5.69 ± 0.36
Pontine Tegmentum5.51 ± 0.41
Striatum5.47 ± 0.47
Subthalamus5.48 ± 0.16
Temporal Lobe5.49 ± 0.38
Thalamus5.57 ± 0.37
White Matter5.63 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abcf2CBCerebellum32.05
49.55
Abcf2CTXCerebral cortex100
73.98
Abcf2HIPHippocampal region48.29
68.77
Abcf2HPFHippocampal formation57.7
57.67
Abcf2HYHypothalamus43.96
22.7
Abcf2LSXLateral septal complex35.58
18.96
Abcf2MBMidbrain68.11
46.47
Abcf2MYMedulla76.19
70.19
Abcf2OLFOlfactory bulb64.13
41.2
Abcf2PPons70.17
63.93
Abcf2PALPallidum50.17
31.43
Abcf2RHPRetrohippocampal region75.27
45.94
Abcf2sAMYStriatum-like amygdalar nuclei38.8
14.62
Abcf2STRStriatum49.39
21.01
Abcf2STRdStriatum dorsal region47.53
19.43
Abcf2STRvStriatum ventral region71.45
31.62
Abcf2THThalamus74.7
49.96
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ABCF2_HUMAN_2 19 2 20 PSDLAKKKAAKKKEAAKAR PRIDE
ABCF2_HUMAN_442 14 442 455 LLTGELLPTDGMIR PRIDE
PAp00004691 17 179 195 LAHEDAECEKLMELYER 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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