AutismKB 2.0

Annotation Detail for MACF1


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Basic Information Top
Gene Symbol:MACF1 ( ABP620,ACF7,FLJ45612,FLJ46776,KIAA0465,KIAA1251,MACF,OFC4 )
Gene Full Name: microtubule-actin crosslinking factor 1
Band: 1p34.3
Quick LinksEntrez ID:23499; OMIM: 608271; Uniprot ID:MACF1_HUMAN; ENSEMBL ID: ENSG00000127603; HGNC ID: 13664
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
fetus85 / 564012150
neonate3 / 3109796
infant0 / 236200 
juvenile6 / 55556107
adult324 / 1939121167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor24 / 114246210
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor25 / 26384594
glioma4 / 10688337
head and neck tumor20 / 136302146
kidney tumor5 / 6895972
leukemia11 / 95842114
liver tumor10 / 96359103
lung tumor7 / 10312767
lymphoma9 / 71755125
non-neoplasia7 / 9725071
normal453 / 3360307134
ovarian tumor11 / 76682143
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland3 / 3319790
ascites1 / 4001524
bladder3 / 29757100
blood18 / 123478145
bone11 / 71655153
bone marrow2 / 4880140
brain160 / 1100989145
cervix0 / 481710 
connective tissue9 / 14925560
ear2 / 16212123
embryonic tissue30 / 215722139
esophagus0 / 202090 
eye29 / 211054137
heart10 / 89626111
intestine41 / 234472174
kidney10 / 21177747
larynx6 / 24145248
liver19 / 20774391
lung47 / 336974139
lymph7 / 44270158
lymph node13 / 91610141
mammary gland31 / 153271202
mouth7 / 67052104
muscle19 / 107715176
nerve3 / 15768190
ovary12 / 102051117
pancreas20 / 21481293
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland4 / 16585241
placenta28 / 28082599
prostate16 / 18934584
salivary gland1 / 2015549
skin13 / 21057461
spleen4 / 5395274
stomach11 / 96619113
testis29 / 33044287
thymus8 / 8113198
thyroid10 / 47473210
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord1 / 1368073
uterus23 / 23287898
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208633_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts58.25
Adipocyte27.85
AdrenalCortex19.95
Adrenalgland16.55
Amygdala49.25
Appendix19.4
AtrioventricularNode12.55
BDCA4+_DentriticCells39.95
Bonemarrow15.15
BronchialEpithelialCells21.85
CD105+_Endothelial12.8
CD14+_Monocytes17.55
CD19+_BCells(neg._sel.)35.25
CD33+_Myeloid51.3
CD34+200.1
CD4+_Tcells195.35
CD56+_NKCells199
CD71+_EarlyErythroid10.85
CD8+_Tcells145.8
CardiacMyocytes28.35
Caudatenucleus41.6
Cerebellum16
CerebellumPeduncles27.05
CiliaryGanglion14.45
CingulateCortex28.6
Colorectaladenocarcinoma68.05
DorsalRootGanglion11.7
FetalThyroid19.35
Fetalbrain58
Fetalliver14.75
Fetallung59.65
GlobusPallidus25.55
Heart21.25
Hypothalamus53.8
Kidney15.8
Leukemia_chronicMyelogenousK-56232
Leukemia_promyelocytic-HL-6014.15
Leukemialymphoblastic(MOLT-4)15.4
Liver17.25
Lung46
Lymphnode27.25
Lymphoma_burkitts(Daudi)24.8
Lymphoma_burkitts(Raji)16.05
MedullaOblongata30.2
OccipitalLobe29.7
OlfactoryBulb22.65
Ovary12.9
Pancreas11.7
PancreaticIslet16.25
ParietalLobe42
Pituitary25.35
Placenta21.1
Pons21.45
PrefrontalCortex95.05
Prostate41.65
Salivarygland15.9
SkeletalMuscle21.8
Skin15.7
SmoothMuscle42.8
Spinalcord61.5
SubthalamicNucleus43.75
SuperiorCervicalGanglion13.45
TemporalLobe19.3
Testis15.05
TestisGermCell29.1
TestisIntersitial19.6
TestisLeydigCell18.45
TestisSeminiferousTubule16.95
Thalamus49.35
Thymus15.35
Thyroid38.45
Tongue14.5
Tonsil20.65
Trachea16.4
TrigeminalGanglion12.6
Uterus86.25
UterusCorpus19.05
WholeBlood21.4
Wholebrain15.55
colon17.85
pineal_day116.22
pineal_night88.08
retina44.325
small_intestine15.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P418637
  • 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
Amygdala9.74 ± 0.26
Basal Forebrain9.94 ± 0.29
Basal Part of Pons9.37 ± 0.17
Cerebellar Cortex9.56 ± 0.14
Cerebellar Nuclei9.85 ± 0.2
Claustrum9.74 ± 0.34
Epithalamus9.71 ± 0.27
Frontal Lobe9.54 ± 0.28
Globus Pallidus10.51 ± 0.18
Hypothalamus9.58 ± 0.19
Insula9.53 ± 0.24
Limbic Lobe9.57 ± 0.32
Mesencephalon9.82 ± 0.22
Myelencephalon9.69 ± 0.32
Occipital Lobe9.93 ± 0.33
Parietal Lobe9.67 ± 0.24
Pontine Tegmentum9.71 ± 0.26
Striatum9.74 ± 0.3
Subthalamus9.83 ± 0.08
Temporal Lobe9.54 ± 0.23
Thalamus9.82 ± 0.17
White Matter10.6 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Macf1CBCerebellum60.04
100
Macf1CTXCerebral cortex100
100
Macf1HIPHippocampal region84.92
100
Macf1HPFHippocampal formation100
100
Macf1HYHypothalamus100
100
Macf1LSXLateral septal complex100
95.69
Macf1MBMidbrain100
100
Macf1MYMedulla88.37
100
Macf1OLFOlfactory bulb100
100
Macf1PPons98.45
100
Macf1PALPallidum100
100
Macf1RHPRetrohippocampal region100
100
Macf1sAMYStriatum-like amygdalar nuclei100
100
Macf1STRStriatum100
85.19
Macf1STRdStriatum dorsal region100
82.92
Macf1STRvStriatum ventral region99.77
76.01
Macf1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MACF4_HUMAN_2502 14 2502 2515 DIMEIEGEPAPDHR PRIDE
MACF4_HUMAN_2654 14 2654 2667 LLPQAEMFEHLSGK PRIDE
MACF4_HUMAN_3228 19 3228 3246 LQAALASTQQFQQMFDELR PRIDE
MACF4_HUMAN_3442 10 3442 3451 TGSLEEMTQR PRIDE
MACF4_HUMAN_3570 21 3570 3590 EMFSQLADLDDELDGMGAIGR PRIDE
MACF4_HUMAN_4268 12 4268 4279 HKDSMDELFSHR PRIDE
MACF4_HUMAN_5257 10 5257 5266 RTGTVQVLKR PRIDE
MACF4_HUMAN_5449 11 5449 5459 DQEPIPQNIDR PRIDE
MACF4_HUMAN_5624 12 5624 5635 LEMTAVADIFDR PRIDE
MACF4_HUMAN_5752 15 5752 5766 FILPEGASQGMTPFR PRIDE
MACF4_HUMAN_798 27 798 824 LLHNVLMADKAISGVLDPRTQTLCSVK PRIDE
PAp00032416 17 4345 4361 ALIAQLPSPAIDHEQLR 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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