AutismKB 2.0

Annotation Detail for FAM82A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM82A1 ( FAM82A,FLJ32954,FLJ38143,MGC33318,PRO34163,PYST9371,RMD2,RMD4 )
Gene Full Name: family with sequence similarity 82, member A1
Band: 2p22.2
Quick LinksEntrez ID:151393; OMIM: 611872; Uniprot ID:RMD2_HUMAN; ENSEMBL ID: ENSG00000115841; HGNC ID:
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 body0 / 707610 
blastocyst1 / 6231916
fetus8 / 56401214
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult26 / 193912113
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal40 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach1 / 9661910
testis13 / 33044239
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8458_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
Amygdala1.97 ± 1.1
Basal Forebrain1.47 ± 0.17
Basal Part of Pons1.16 ± 0.35
Cerebellar Cortex1.28 ± 0.67
Cerebellar Nuclei1.82 ± 0.89
Claustrum2.34 ± 0.86
Epithalamus1.23 ± 0.69
Frontal Lobe1.33 ± 0.58
Globus Pallidus2.05 ± 0.31
Hypothalamus1.75 ± 1.1
Insula1.4 ± 0.46
Limbic Lobe1.46 ± 0.58
Mesencephalon1.64 ± 0.66
Myelencephalon1.51 ± 0.65
Occipital Lobe1.52 ± 0.58
Parietal Lobe1.5 ± 0.64
Pontine Tegmentum1.53 ± 0.65
Striatum1.64 ± 0.48
Subthalamus1.62 ± 0.56
Temporal Lobe1.39 ± 0.7
Thalamus1.5 ± 0.63
White Matter2.01 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AW061290CBCerebellum12.99
14.17
AW061290CTXCerebral cortex22.46
15.34
AW061290HIPHippocampal region13.65
12.69
AW061290HPFHippocampal formation15.3
12.76
AW061290HYHypothalamus21.31
15.91
AW061290LSXLateral septal complex15.23
11.06
AW061290MBMidbrain17.16
14.91
AW061290MYMedulla14.65
14.3
AW061290OLFOlfactory bulb26.96
20.64
AW061290PPons21.18
19.95
AW061290PALPallidum14.32
11.56
AW061290RHPRetrohippocampal region19.12
13.47
AW061290sAMYStriatum-like amygdalar nuclei13.18
8.36
AW061290STRStriatum13.22
8.72
AW061290STRdStriatum dorsal region13.1
8.9
AW061290STRvStriatum ventral region13.23
7.58
AW061290THThalamus25.84
20.67
Peptide Top

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