AutismKB 2.0

Annotation Detail for FAM54A


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Basic Information Top
Gene Symbol:FAM54A ( DUFD1 )
Gene Full Name: family with sequence similarity 54, member A
Band: 6q23.3
Quick LinksEntrez ID:113115; OMIM: NA; Uniprot ID:FA54A_HUMAN; ENSEMBL ID: ENSG00000146410; 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 
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult19 / 19391219
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver4 / 20774319
lung1 / 3369742
lymph0 / 442700 
lymph node5 / 9161054
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P253752
  • 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
Amygdala1.91 ± 1.03
Basal Forebrain1.44 ± 0.2
Basal Part of Pons1.04 ± 0.34
Cerebellar Cortex1.64 ± 0.69
Cerebellar Nuclei1.85 ± 0.69
Claustrum2.36 ± 0.84
Epithalamus1.61 ± 0.68
Frontal Lobe1.51 ± 0.66
Globus Pallidus2.17 ± 0.59
Hypothalamus1.63 ± 0.65
Insula1.47 ± 0.61
Limbic Lobe1.51 ± 0.61
Mesencephalon1.8 ± 0.78
Myelencephalon1.63 ± 0.6
Occipital Lobe1.74 ± 0.82
Parietal Lobe1.68 ± 0.77
Pontine Tegmentum1.75 ± 0.67
Striatum1.51 ± 0.44
Subthalamus1.68 ± 0.61
Temporal Lobe1.43 ± 0.65
Thalamus1.7 ± 0.61
White Matter1.82 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2610016C23RikCBCerebellum1.08
1.29
2610016C23RikCTXCerebral cortex3.91
2.92
2610016C23RikHIPHippocampal region5.35
4.68
2610016C23RikHPFHippocampal formation3.93
3.22
2610016C23RikHYHypothalamus0.61
0.55
2610016C23RikLSXLateral septal complex0.44
0.33
2610016C23RikMBMidbrain0.45
0.58
2610016C23RikMYMedulla0.84
1.5
2610016C23RikOLFOlfactory bulb6.62
6.97
2610016C23RikPPons3.59
5.49
2610016C23RikPALPallidum0.81
0.66
2610016C23RikRHPRetrohippocampal region1.71
1.33
2610016C23RiksAMYStriatum-like amygdalar nuclei0.45
0.28
2610016C23RikSTRStriatum1.3
0.93
2610016C23RikSTRdStriatum dorsal region1.21
0.87
2610016C23RikSTRvStriatum ventral region2.42
1.59
2610016C23RikTHThalamus1.54
1.26
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