Aliases for LOC100129175 Gene

Data sources for LOC100129175 Gene:

RNA type for LOC100129175 Gene


Aliases for LOC100129175 Gene

External Ids for LOC100129175 Gene

Previous GeneCards Identifiers for LOC100129175 Gene

  • GC02U901480
  • GC02P219572
  • GC02P219867

Summaries for LOC100129175 Gene

GeneCards Summary for LOC100129175 Gene

LOC100129175 (Uncharacterized LOC100129175) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with LOC100129175 include Spermatogenic Failure 40.

Additional gene information for LOC100129175 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC100129175 Gene

Genomics for LOC100129175 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOC100129175 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J218997 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 250.7 -1.6 -1641 5.7 ZNF600 POLR2A ZIC2 CHD4 YY1 REST KLF11 ETS1 ZNF341 HOMEZ HSALNG0022324 LOC100129175 MIR375 PNKD FEV CRYBA2 CFAP65
GH02J218829 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.6 -169.8 -169800 5.4 ZNF600 ZIC2 CEBPB ZNF513 NBN JUND GATA3 ZNF217 MAFF ZNF768 PRKAG3 HSALNG0022300 WNT6 PLCD4 RNF25 STK36 LOC100129175 MIR375 SLC11A1 RPL23AP31
GH02J219121 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 10.8 +123.1 123122 7.5 NCOR1 IKZF1 KLF9 CEBPA ATF3 JUND NFIC HES1 BHLHE40 HOMEZ lnc-IHH-1 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 RETREG2
GH02J219058 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 10.7 +57.7 57707 3.4 EZH2 ZNF654 ZNF600 ZIC2 CTCF REST TARDBP SIN3A THAP11 FOXA2 IHH MIR3131 LOC100129175 MIR375 NHEJ1 SLC23A3 CFAP65
GH02J219070 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 +70.3 70272 4 CEBPA REST KLF11 TRIM22 HOMEZ CTCF KMT2B FOXA2 KDM6A SMAD4 HSALNG0022332 MN297770 NHEJ1 SLC23A3 LOC100129175 MIR375 PTPRN ZFAND2B IHH lnc-RETREG2-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC100129175 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for LOC100129175 Gene

Latest Assembly
15,259 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
13,508 bases
Plus strand

(GRCh37/hg19 by Ensembl)
13,507 bases
Plus strand

Genomic View for LOC100129175 Gene

Genes around LOC100129175 on UCSC Golden Path with GeneCards custom track
LOC100129175 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
LOC100129175 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100129175 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100129175 Gene

Proteins for LOC100129175 Gene

Post-translational modifications for LOC100129175 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100129175 Gene

Domains & Families for LOC100129175 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100129175 Gene

Function for LOC100129175 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC100129175 Gene

Localization for LOC100129175 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC100129175 Gene

Pathways & Interactions for LOC100129175 Gene

PathCards logo

SuperPathways for LOC100129175 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC100129175 Gene


No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC100129175 Gene

Drugs & Compounds for LOC100129175 Gene

No Compound Related Data Available

Transcripts for LOC100129175 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100129175 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS0000759B40_9606 lncRNA 1993 2

RefSeq: NR_046086,


URS00003ADCDD_9606 lncRNA 1992 1

Ensembl: ENST00000441450 (view in UCSC) ,

URS00009C1D63_9606 lncRNA 1992 2

LncBook: HSALNT0047404,


URS0001BCE680_9606 lncRNA 2408 1

LncBook: HSALNT0047403,

URS0001BDA67F_9606 lncRNA 2378 1

LncBook: HSALNT0047402,

LOC100129175 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for LOC100129175 Gene

2 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100129175 Gene

No ASD Table

Relevant External Links for LOC100129175 Gene

GeneLoc Exon Structure for

Expression for LOC100129175 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LOC100129175 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100129175

genes like me logo Genes that share expression patterns with LOC100129175: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC100129175 Gene

Orthologs for LOC100129175 Gene

Evolution for LOC100129175 Gene

Gene Tree for LOC100129175 (if available)
Gene Tree for LOC100129175 (if available)

No data available for Orthologs for LOC100129175 Gene

Paralogs for LOC100129175 Gene

No data available for Paralogs for LOC100129175 Gene

Variants for LOC100129175 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100129175 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
916252 Uncertain Significance: not provided 219,013,323(+) T/A
NM_194302.4(CFAP65):c.3893A>T (p.His1298Leu)
rs115409821 Benign: not provided 219,005,519(+) A/G
NM_194302.4(CFAP65):c.4966T>C (p.Ser1656Pro)
rs115550782 Benign: not provided 219,009,154(+) G/A
NM_194302.4(CFAP65):c.4567C>T (p.Leu1523=)
rs1269179049 Pathogenic: Spermatogenic failure 40 219,004,166(+) C/A
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)
rs139829270 Benign: not provided 219,004,065(+) G/A
NM_194302.4(CFAP65):c.5442C>T (p.Ile1814=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LOC100129175 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LOC100129175 Gene

Variant ID Type Subtype PubMed ID
nsv584491 CNV loss 21841781
nsv834542 CNV gain 17160897
nsv954839 CNV deletion 24416366

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100129175 Gene

Disorders for LOC100129175 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC100129175 Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
spermatogenic failure 40
  • spgf40
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LOC100129175

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LOC100129175: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC100129175 Gene

Publications for LOC100129175 Gene

  1. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. (PMID: 31501240) Li W … Zhang F (Journal of medical genetics 2020) 72
  2. Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. (PMID: 31413122) Wang W … Tan YQ (Journal of medical genetics 2019) 72
  3. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. (PMID: 28552195) Tang S … Zhang F (American journal of human genetics 2017) 72
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

No data available for Mastermind for LOC100129175 Gene

Products for LOC100129175 Gene

Sources for LOC100129175 Gene