AutismKB 2.0

Annotation Detail for FAHD1


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Basic Information Top
Gene Symbol:FAHD1 ( C16orf36,DKFZp566J2046,MGC74876,YISKL )
Gene Full Name: fumarylacetoacetate hydrolase domain containing 1
Band: 16p13.3
Quick LinksEntrez ID:81889; OMIM: NA; Uniprot ID:FAHD1_HUMAN; ENSEMBL ID: ENSG00000180185; HGNC ID: 14169
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 body1 / 7076114
blastocyst0 / 623190 
fetus17 / 56401230
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult67 / 193912134
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 tumor4 / 34366116
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma9 / 10688384
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal122 / 336030736
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor18 / 124949144
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain39 / 110098935
cervix4 / 4817183
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye9 / 21105442
heart3 / 8962633
intestine6 / 23447225
kidney6 / 21177728
larynx0 / 241450 
liver5 / 20774324
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland19 / 153271123
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary5 / 10205148
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate6 / 18934531
salivary gland0 / 201550 
skin22 / 210574104
spleen0 / 539520 
stomach5 / 9661951
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus13 / 23287855
vascular4 / 5178077
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8595_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
Amygdala7.86 ± 0.64
Basal Forebrain7.95 ± 0.15
Basal Part of Pons8.5 ± 0.29
Cerebellar Cortex8.18 ± 0.22
Cerebellar Nuclei8.4 ± 0.39
Claustrum8.32 ± 0.2
Epithalamus7.95 ± 0.27
Frontal Lobe8.43 ± 0.38
Globus Pallidus7.87 ± 0.43
Hypothalamus8.33 ± 0.31
Insula8.46 ± 0.17
Limbic Lobe8.41 ± 0.45
Mesencephalon8.16 ± 0.35
Myelencephalon8.22 ± 0.44
Occipital Lobe8.06 ± 0.43
Parietal Lobe8.32 ± 0.3
Pontine Tegmentum8.26 ± 0.35
Striatum7.58 ± 0.47
Subthalamus8.47 ± 0.03
Temporal Lobe8.41 ± 0.36
Thalamus8.23 ± 0.3
White Matter7.94 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fahd1CBCerebellum12.02
15.47
Fahd1CTXCerebral cortex9
7.41
Fahd1HIPHippocampal region16.88
17.46
Fahd1HPFHippocampal formation17.89
17.37
Fahd1HYHypothalamus4.15
3.44
Fahd1LSXLateral septal complex0.16
0.09
Fahd1MBMidbrain1.69
2.46
Fahd1MYMedulla7.03
8.92
Fahd1OLFOlfactory bulb26.88
24.32
Fahd1PPons7.48
9.7
Fahd1PALPallidum7.06
7.53
Fahd1RHPRetrohippocampal region20.38
17.85
Fahd1sAMYStriatum-like amygdalar nuclei13.88
11.01
Fahd1STRStriatum4.93
4.13
Fahd1STRdStriatum dorsal region1.97
1.74
Fahd1STRvStriatum ventral region12.13
9.44
Fahd1THThalamus3.07
2.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FAHD1_HUMAN_0 0 0 0 IITLEEGDIILTGTPK PRIDE
FAHD1_HUMAN_123 14 123 136 SFTASCPVSAFVPK PRIDE
FAHD1_HUMAN_178 16 178 193 IITLEEGDIILTGTPK PRIDE
FAHD1_HUMAN_66 14 66 79 NLHHELELGVVMGK PRIDE
FAHD1_HUMAN_67 14 67 80 NLHHELELGVVMGK PRIDE
PAp00007092 14 124 137 SFTASCPVSAFVPK 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