AutismKB 2.0

Annotation Detail for MRFAP1


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Basic Information Top
Gene Symbol:MRFAP1 ( PAM14,PGR1 )
Gene Full Name: Mof4 family associated protein 1
Band: 4p16.1
Quick LinksEntrez ID:93621; OMIM: NA; Uniprot ID:MOFA1_HUMAN; ENSEMBL ID: ENSG00000179010; HGNC ID: 24549
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
blastocyst6 / 6231996
fetus18 / 56401231
neonate2 / 3109764
infant28 / 236201185
juvenile11 / 55556197
adult128 / 193912166
embryoid body20 / 70761282
blastocyst19 / 62319304
fetus56 / 56401299
neonate0 / 310970 
infant4 / 23620169
juvenile5 / 5555689
adult281 / 1939121144
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) tumor6 / 9417863
cervical tumor10 / 34366290
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor26 / 26384598
glioma7 / 10688365
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor22 / 96359228
lung tumor7 / 10312767
lymphoma3 / 7175541
non-neoplasia47 / 97250483
normal347 / 3360307103
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS57 / 125680453
prostate cancer8 / 10268077
retinoblastoma8 / 46356172
skin tumor11 / 12494988
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor1 / 9025711
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor27 / 94178286
cervical tumor5 / 34366145
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor20 / 26384575
glioma5 / 10688346
head and neck tumor13 / 13630295
kidney tumor4 / 6895958
leukemia3 / 9584231
liver tumor16 / 96359166
lung tumor5 / 10312748
lymphoma8 / 71755111
non-neoplasia9 / 9725092
normal337 / 3360307100
ovarian tumor7 / 7668291
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer74 / 102680720
retinoblastoma10 / 46356215
skin tumor13 / 124949104
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor25 / 90257276
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites4 / 4001599
bladder5 / 29757168
blood4 / 12347832
bone3 / 7165541
bone marrow2 / 4880140
brain229 / 1100989207
cervix11 / 48171228
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus5 / 20209247
eye14 / 21105466
heart16 / 89626178
intestine28 / 234472119
kidney14 / 21177766
larynx0 / 241450 
liver27 / 207743129
lung25 / 33697474
lymph3 / 4427067
lymph node1 / 9161010
mammary gland10 / 15327165
mouth0 / 670520 
muscle12 / 107715111
nerve2 / 15768126
ovary8 / 10205178
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta27 / 28082596
prostate11 / 18934558
salivary gland0 / 201550 
skin13 / 21057461
spleen7 / 53952129
stomach8 / 9661982
testis47 / 330442142
thymus20 / 81131246
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus19 / 23287881
vascular2 / 5178038
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites4 / 4001599
bladder4 / 29757134
blood5 / 12347840
bone4 / 7165555
bone marrow1 / 4880120
brain131 / 1100989118
cervix7 / 48171145
connective tissue4 / 14925526
ear5 / 16212308
embryonic tissue69 / 215722319
esophagus0 / 202090 
eye23 / 211054108
heart8 / 8962689
intestine17 / 23447272
kidney8 / 21177737
larynx4 / 24145165
liver23 / 207743110
lung35 / 336974103
lymph4 / 4427090
lymph node2 / 9161021
mammary gland30 / 153271195
mouth6 / 6705289
muscle9 / 10771583
nerve3 / 15768190
ovary9 / 10205188
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland7 / 16585422
placenta52 / 280825185
prostate75 / 189345396
salivary gland0 / 201550 
skin17 / 21057480
spleen0 / 539520 
stomach6 / 9661962
testis21 / 33044263
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus47 / 232878201
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P11965
  • 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
Amygdala9.22 ± 0.35
Basal Forebrain9.01 ± 0.28
Basal Part of Pons9.13 ± 0.35
Cerebellar Cortex8.8 ± 0.32
Cerebellar Nuclei8.94 ± 0.31
Claustrum9.39 ± 0.35
Epithalamus8.77 ± 0.31
Frontal Lobe8.93 ± 0.31
Globus Pallidus9.35 ± 0.19
Hypothalamus8.94 ± 0.13
Insula8.88 ± 0.19
Limbic Lobe8.98 ± 0.29
Mesencephalon9 ± 0.32
Myelencephalon8.97 ± 0.33
Occipital Lobe8.8 ± 0.25
Parietal Lobe8.98 ± 0.33
Pontine Tegmentum8.9 ± 0.25
Striatum8.97 ± 0.31
Subthalamus8.97 ± 0.06
Temporal Lobe9 ± 0.3
Thalamus8.92 ± 0.32
White Matter9.58 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mrfap1CBCerebellum100
100
Mrfap1CTXCerebral cortex100
100
Mrfap1HIPHippocampal region100
100
Mrfap1HPFHippocampal formation100
100
Mrfap1HYHypothalamus100
100
Mrfap1LSXLateral septal complex100
100
Mrfap1MBMidbrain100
100
Mrfap1MYMedulla100
100
Mrfap1OLFOlfactory bulb100
100
Mrfap1PPons100
100
Mrfap1PALPallidum100
100
Mrfap1RHPRetrohippocampal region100
100
Mrfap1sAMYStriatum-like amygdalar nuclei100
100
Mrfap1STRStriatum100
100
Mrfap1STRdStriatum dorsal region100
100
Mrfap1STRvStriatum ventral region100
100
Mrfap1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00496778 24 69 92 TQVEASEESALNHLQNPGDAAEGR 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