Gene Page:ALDH4A1

Summary?
GeneID 8659
Symbol ALDH4A1
Synonyms ALDH4|P5CD|P5CDh
Description aldehyde dehydrogenase 4 family member A1
Reference MIM:606811|HGNC:HGNC:406|Ensembl:ENSG00000159423|HPRD:06009|Vega:OTTHUMG00000002443
Gene type protein-coding
Map location 1p36
Pascal p-value 0.361
Sherlock p-value 0.565
Fetal beta -1.814
eGene Myers' cis & trans
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Gulsuner_2013 Whole Exome Sequencing analysis 155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
ALDH4A1 chr1 19209877 T C NM_001161504
NM_003748
NM_170726		 p.107I>V
p.167I>V
p.167I>V		 missense
missense
missense		 Schizophrenia DNM:Gulsuner_2013

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs6879593 chr5 75253310 ALDH4A1 8659 0.06 trans
rs1859123 chr7 86733664 ALDH4A1 8659 0.09 trans
rs6007842 chr22 48784256 ALDH4A1 8659 0.15 trans
rs10126993 chrX 35885796 ALDH4A1 8659 0.1 trans
rs4501739 chrX 35960848 ALDH4A1 8659 0.04 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
死神:胎儿(13 - 26 postconception我们eks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0003842 1-pyrroline-5-carboxylate dehydrogenase activity TAS glutamate (GO term level: 6) 8621661
GO:0004029 aldehyde dehydrogenase (NAD) activity TAS 8621661
GO:0009055 electron carrier activity TAS 8621661
GO:0016491 oxidoreductase activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0008152 metabolic process IEA -
GO:0006561 proline biosynthetic process IEA -
GO:0006562 proline catabolic process TAS 8621661
GO:0055114 oxidation reduction IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005739 mitochondrion IEA -
GO:0005759 mitochondrial matrix TAS 8621661

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG ALANINE ASPARTATE AND GLUTAMATE METABOLISM 32 26 All SZGR 2.0 genes in this pathway
KEGG ARGININE AND PROLINE METABOLISM 54 39 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200 136 All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567 375 All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201 125 All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE UP 423 283 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450 256 All SZGR 2.0 genes in this pathway
DOANE BREAST CANCER CLASSES UP 72 38 All SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN UP 184 125 All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL DN 244 153 All SZGR 2.0 genes in this pathway
SABATES COLORECTAL ADENOMA UP 141 75 All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA DN 146 94 All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG DN 59 40 All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232 154 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142 669 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612 367 All SZGR 2.0 genes in this pathway
WANG ESOPHAGUS CANCER VS NORMAL DN 101 66 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS NEUROEPITHELIUM UP 176 111 All SZGR 2.0 genes in this pathway
WANG PROSTATE CANCER ANDROGEN INDEPENDENT 66 37 All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO ESTRADIOL DN 82 52 All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER METASTASIS UP 56 31 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE DN 245 154 All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 UP 182 119 All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION DN 184 132 All SZGR 2.0 genes in this pathway
CROMER METASTASIS DN 81 58 All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY UP 86 48 All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP 262 186 All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317 208 All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461 298 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER ERBB2 UP 147 83 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701 446 All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429 260 All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL UP 185 112 All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447 277 All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER DN 134 83 All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266 180 All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER POOR PROGNOSIS 55 30 All SZGR 2.0 genes in this pathway