Summary ?
GeneID547
SymbolKIF1A
SynonymsATSV|C2orf20|HSN2C|MRD9|SPG30|UNC104
Descriptionkinesin family member 1A
ReferenceMIM:601255|HGNC:HGNC:888|Ensembl:ENSG00000130294|HPRD:03156|Vega:OTTHUMG00000151940
Gene typeprotein-coding
Map location2q37.3
Pascal p-value0.618
DMG1 (# studies)
SupportINTRACELLULAR TRAFFICKING
CompositeSet
Darnell FMRP targets
Ascano FMRP targets
Potential synaptic genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 3
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
KIF1Achr2241658510GTNM_001244008
NM_004321
p.1709N>K
p.1608N>K
missense
missense
SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg038968362241760025KIF1A8.89E-6-0.4930.013DMG:Wockner_2014
cg175002022241722099KIF1A1.107E-40.5140.028DMG:Wockner_2014
cg273785912241697024KIF1A4.164E-40.5130.044DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
ST1: fetal (13 - 26 postconception weeks), 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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
TUSC40.910.89
CHKB0.870.87
COQ60.870.84
GEMIN70.840.80
COMMD40.840.84
MPDU10.830.80
RNF250.830.84
HDHD30.830.78
OVCA20.830.86
MTX10.830.78
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-ATP8-0.52-0.63
AF347015.8-0.51-0.56
AF347015.18-0.50-0.60
AF347015.26-0.50-0.58
MT-CYB-0.49-0.55
AF347015.2-0.49-0.55
AF347015.15-0.49-0.54
AF347015.27-0.49-0.56
PTRF-0.47-0.49
MT-CO2-0.46-0.51

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0003777microtubule motor activityIEA-
GO:0005524ATP bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0008089anterograde axon cargo transportTASaxon (GO term level: 9)7539720 
GO:0007018microtubule-based movementIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIDA18029348 
GO:0005874microtubuleIEA-
GO:0005875microtubule associated complexIEA-
GO:0005634nucleusIDA18029348 
GO:0005737cytoplasmIDA18029348 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
WONG ENDMETRIUM CANCER UP 2517All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE UP 13493All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU DN 8369All SZGR 2.0 genes in this pathway
LIAN LIPA TARGETS 6M 7447All SZGR 2.0 genes in this pathway
CHANG IMMORTALIZED BY HPV31 DN 6545All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN 940425All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR UP 221150All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR UP 293203All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS UP 10878All SZGR 2.0 genes in this pathway
NIELSEN SYNOVIAL SARCOMA UP 1814All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857456All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-10135353541m8hsa-miR-101UACAGUACUGUGAUAACUGAAG
miR-141/200a351535211Ahsa-miR-141UAACACUGUCUGGUAAAGAUGG
hsa-miR-200aUAACACUGUCUGGUAACGAUGU