AutismKB 2.0

Annotation Detail for BCLAF1


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Basic Information Top
Gene Symbol:BCLAF1 ( BTF,KIAA0164,bK211L9.1 )
Gene Full Name: BCL2-associated transcription factor 1
Band: 6q23.3
Quick LinksEntrez ID:9774; OMIM: 612588; Uniprot ID:BCLF1_HUMAN; ENSEMBL ID: ENSG00000029363; HGNC ID: 16863
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 body16 / 70761226
blastocyst15 / 62319240
fetus90 / 564012159
neonate4 / 31097128
infant5 / 23620211
juvenile14 / 55556251
adult278 / 1939121143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor16 / 94178169
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor34 / 263845128
glioma13 / 106883121
head and neck tumor28 / 136302205
kidney tumor7 / 68959101
leukemia15 / 95842156
liver tumor12 / 96359124
lung tumor5 / 10312748
lymphoma8 / 71755111
non-neoplasia8 / 9725082
normal463 / 3360307137
ovarian tumor10 / 76682130
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer12 / 102680116
retinoblastoma7 / 46356151
skin tumor7 / 12494956
soft tissue/muscle tissue tumor39 / 125191311
uterine tumor19 / 90257210
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder6 / 29757201
blood16 / 123478129
bone12 / 71655167
bone marrow11 / 48801225
brain136 / 1100989123
cervix5 / 48171103
connective tissue35 / 149255234
ear3 / 16212185
embryonic tissue43 / 215722199
esophagus0 / 202090 
eye22 / 211054104
heart5 / 8962655
intestine29 / 234472123
kidney27 / 211777127
larynx1 / 2414541
liver35 / 207743168
lung35 / 336974103
lymph5 / 44270112
lymph node32 / 91610349
mammary gland27 / 153271176
mouth19 / 67052283
muscle17 / 107715157
nerve3 / 15768190
ovary12 / 102051117
pancreas30 / 214812139
parathyroid3 / 20539146
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta35 / 280825124
prostate26 / 189345137
salivary gland0 / 201550 
skin18 / 21057485
spleen3 / 5395255
stomach10 / 96619103
testis43 / 330442130
thymus14 / 81131172
thyroid8 / 47473168
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus36 / 232878154
vascular18 / 51780347
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201084_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1098.35
Adipocyte165.85
AdrenalCortex211.55
Adrenalgland44.5
Amygdala418.8
Appendix147.65
AtrioventricularNode57.35
BDCA4+_DentriticCells954.5
Bonemarrow12.75
BronchialEpithelialCells284.75
CD105+_Endothelial1237
CD14+_Monocytes415
CD19+_BCells(neg._sel.)1100.8
CD33+_Myeloid1488.1
CD34+1339.7
CD4+_Tcells992.55
CD56+_NKCells811.25
CD71+_EarlyErythroid284.15
CD8+_Tcells1106.3
CardiacMyocytes227.05
Caudatenucleus284.8
Cerebellum107.75
CerebellumPeduncles105.35
CiliaryGanglion54.8
CingulateCortex188.35
Colorectaladenocarcinoma188.75
DorsalRootGanglion99.15
FetalThyroid317.95
Fetalbrain538.85
Fetalliver338.55
Fetallung396.05
GlobusPallidus167.45
Heart11.85
Hypothalamus577.75
Kidney8.1
Leukemia_chronicMyelogenousK-562349.15
Leukemia_promyelocytic-HL-60405.4
Leukemialymphoblastic(MOLT-4)407.25
Liver13.05
Lung11.2
Lymphnode515.05
Lymphoma_burkitts(Daudi)533.35
Lymphoma_burkitts(Raji)125.9
MedullaOblongata269.5
OccipitalLobe379.75
OlfactoryBulb266.25
Ovary268.4
Pancreas206.05
PancreaticIslet351
ParietalLobe253.1
Pituitary867.25
Placenta49.75
Pons109.35
PrefrontalCortex829.35
Prostate123.8
Salivarygland281.2
SkeletalMuscle45.25
Skin96.1
SmoothMuscle387.55
Spinalcord372.9
SubthalamicNucleus178.05
SuperiorCervicalGanglion42.05
TemporalLobe132.6
Testis30.9
TestisGermCell389.05
TestisIntersitial126.2
TestisLeydigCell175.2
TestisSeminiferousTubule248.45
Thalamus266.85
Thymus67.7
Thyroid679.35
Tongue134.25
Tonsil285
Trachea231.7
TrigeminalGanglion45.05
Uterus534.2
UterusCorpus99.1
WholeBlood431.35
Wholebrain143.4
colon143.95
pineal_day1004.24
pineal_night957.86
retina221.625
small_intestine105.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P80915
  • 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
Amygdala4.45 ± 0.97
Basal Forebrain3.79 ± 0.63
Basal Part of Pons4.31 ± 0.6
Cerebellar Cortex4.69 ± 0.2
Cerebellar Nuclei3.93 ± 0.54
Claustrum3.94 ± 0.71
Epithalamus4.1 ± 0.55
Frontal Lobe4.28 ± 0.48
Globus Pallidus2.92 ± 0.4
Hypothalamus4.08 ± 0.39
Insula4.59 ± 0.44
Limbic Lobe4.21 ± 0.66
Mesencephalon4.25 ± 0.57
Myelencephalon4.15 ± 0.56
Occipital Lobe4.44 ± 0.5
Parietal Lobe4.16 ± 0.64
Pontine Tegmentum4.24 ± 0.59
Striatum4.3 ± 0.55
Subthalamus4.13 ± 0.42
Temporal Lobe4.32 ± 0.51
Thalamus4.04 ± 0.55
White Matter2.45 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bclaf1CBCerebellum100
100
Bclaf1CTXCerebral cortex100
100
Bclaf1HIPHippocampal region100
100
Bclaf1HPFHippocampal formation100
100
Bclaf1HYHypothalamus100
100
Bclaf1LSXLateral septal complex100
100
Bclaf1MBMidbrain100
100
Bclaf1MYMedulla100
100
Bclaf1OLFOlfactory bulb100
100
Bclaf1PPons100
100
Bclaf1PALPallidum100
100
Bclaf1RHPRetrohippocampal region100
100
Bclaf1sAMYStriatum-like amygdalar nuclei100
100
Bclaf1STRStriatum100
100
Bclaf1STRdStriatum dorsal region100
100
Bclaf1STRvStriatum ventral region100
100
Bclaf1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BCLF1_HUMAN_205 20 205 224 SSATSGDIWPGLSAYDNSPR PRIDE
BCLF1_HUMAN_284 15 284 298 YSPSQNSPIHHIPSR PRIDE
BCLF1_HUMAN_371 17 371 387 AEGEWEDQEALDYFSDK PRIDE
BCLF1_HUMAN_493 9 493 501 ETQSPEQVK PRIDE
BCLF1_HUMAN_505 13 505 517 LKDLFDYSPPLHK PRIDE
BCLF1_HUMAN_654 10 654 663 RIDISPSTLR PRIDE
BCLF1_HUMAN_832 11 832 842 EEEWDPEYTPK PRIDE
PAp00065482 16 189 204 DTFEHDPSESIDEFNK 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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