Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

Advanced Search

Field

Term

Summary Table

Your research retrieved 24 results.

Summary
Others

Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies)	Domesticated	Candidate Gene	Berryere TG; Kerns JA; Barsh GS ; et al. (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000060	Asip Q03288	Morphology	c.244G>T + 248G>A ; p.A82S + p.R83H A82S and R83H in Linkage Disequilibrium a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence It is unknown if one or both substitutions alter Agouti protein function	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies)	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Kerns JA; Newton J; Berryere TG ; et al. (2004) Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. 1 Additional References Berryere TG; Kerns JA; Barsh GS (2005) Association of an Agouti allele with fawn or sable coat color in domestic dogs.	GP00000061	Asip Q03288	Morphology	R96C ; g.23393552C>T c.286C>T p.R96C	Canis lupus familiaris dog - (subspecies)	Canis lupus familiaris dog - (subspecies) D	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (skin; hair)	Cis-regulatory, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Bonilla C; Boxill LA; Donald SA ; et al. (2005) The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...] 2 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans. Voisey J; Gomez-Cabrera Mdel C; Smit DJ (2006) A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.	GP00000070	Asip Q03288	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	Agouti (ASIP)	Homo sapiens human - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...] 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00001324	Asip Q03288	Morphology	~190kb gene duplication causing dominant white phenotype. Duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment ; possible involvement of gene conversion.	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, SNP	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]	GP00001325	Asip Q03288	Morphology	unidentified promoter silencing	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Vermivora cyanoptera blue-winged warbler - (species)	Interspecific	Association Mapping	Toews DP; Taylor SA; Vallender R ; et al. (2016) Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.	GP00001331	Asip Q03288	Morphology	unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region	Vermivora chrysoptera Golden-winged warbler - (species)	Vermivora cyanoptera blue-winged warbler - (species)	Agouti (ASIP)	Vermivora cyanoptera blue-winged warbler - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Monarcha castaneiventris Makira monarch - (species) D	Intraspecific	Association Mapping	Uy JA; Cooper EA; Cutie S ; et al. (2016) Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]	GP00001334	Asip Q03288	Morphology	Ile55Thr	Monarcha castaneiventris Makira monarch - (species)	Monarcha castaneiventris Makira monarch - (species) D	Agouti (ASIP)	Monarcha castaneiventris Makira monarch - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Abitbol M; Legrand R; Tiret L (2015) A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light poin[...]	GP00001335	Asip Q03288	Morphology	c.349T>C p.Cys117Arg	Equus asinus ass - (species)	Equus asinus ass - (species) D	Agouti (ASIP)	Equus asinus ass - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Dreger DL; Schmutz SM (2011 Sep-Oct) A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.	GP00001336	Asip Q03288	Morphology	A 239bp SINE insertion in reverse orientation in intron 1	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	Agouti (ASIP)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat) Lifespan	Coding, Deletion N	Ovis aries sheep - (species) D	Intraspecific	Linkage Mapping	Gratten J; Pilkington JG; Brown EA ; et al. (2010) The genetic basis of recessive self-colour pattern in a wild sheep population. 1 Additional References Gratten J; Pilkington JG; Brown EA (2012) Selection and microevolution of coat pattern are cryptic in a wild population of sheep.	GP00001356	Asip Q03288	Morphology Physiology	deletion of 5 bp - g.100-104delAGGAA in exon2 - frame-shift mutation that introduces a premature stop codon at amino acid position 64 resulting in a mature peptide that lacks the functionally important cysteine-signalling domain. N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat) Lifespan	Coding, SNP N	Ovis aries sheep - (species) D	Intraspecific	Linkage Mapping	Gratten J; Pilkington JG; Brown EA ; et al. (2010) The genetic basis of recessive self-colour pattern in a wild sheep population. 1 Additional References Gratten J; Pilkington JG; Brown EA (2012) Selection and microevolution of coat pattern are cryptic in a wild population of sheep.	GP00001356	Asip Q03288	Morphology Physiology	g.5172T-A in exon 4 - non-synonymous mutation that is predicted to cause a cysteine to serine substitution at codon 126 within the signalling domain of the protein N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Agouti (ASIP)	Ovis aries sheep - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Forestier L; Allain D ; et al. (2010) Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...] 1 Additional References Sakuma Y; Matsunami M; Takada T (2019) Multiple Conserved Elements Structuring Inverted Repeats in the Mammalian Coat Color-Related Gene As[...]	GP00001968	Asip Q03288	Morphology	an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Deletion N	D	Intraspecific	Candidate Gene	Miller SM; Guthrie AJ; Harper CK (2016) Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyce[...]	GP00001977	Asip Q03288	Morphology	recessive c.174delA was found in all black phenotype sequences ; premature stop codon (239–241 bp) N		D	Agouti (ASIP)		Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, Deletion N	Camelus dromedarius Arabian camel - (species) D	Domesticated	Candidate Gene	Almathen F; Elbir H; Bahbahani H ; et al. (2018) Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel. 1 Additional References Alshanbari F; Castaneda C; Juras R (2019) Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Anal[...]	GP00001978	Asip Q03288	Morphology	1-bp deletion at position 23 resulting in frameshift N	Camelus dromedarius Arabian camel - (species)	Camelus dromedarius Arabian camel - (species) D	Agouti (ASIP)	Camelus dromedarius Arabian camel - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Lepus americanus snowshoe hare - (species) D	Intraspecific	Association Mapping	Jones MR; Mills LS; Alves PC ; et al. (2018) Adaptive introgression underlies polymorphic seasonal camouflage in snowshoe hares.	GP00002060	Asip Q03288	Morphology	exact mutation(s) unknown	Lepus americanus snowshoe hare - (species)	Lepus americanus snowshoe hare - (species) D	Agouti (ASIP)	Lepus americanus snowshoe hare - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Unknown	Lepus timidus Mountain hare - (species) D	Intraspecific	Association Mapping	Giska I; Farelo L; Pimenta J ; et al. (2019) Introgression drives repeated evolution of winter coat color polymorphism in hares.	GP00002061	Asip Q03288	Morphology	exact mutation(s) unknown	Lepus timidus Mountain hare - (species)	Lepus timidus Mountain hare - (species) D	Agouti (ASIP)	Lepus timidus Mountain hare - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Mus musculus house mouse - (species) D	Domesticated	Candidate Gene	Morgan HD; Sutherland HG; Martin DI ; et al. (1999) Epigenetic inheritance at the agouti locus in the mouse.	GP00002107	Asip Q03288	Morphology	insertion of an intra-cisternal A particle (IAP) retrotransposon upstream of the agouti gene (A). This activates transcription and causes ectopic expression of agouti protein; resulting in yellow fur; obesity; diabetes and increased susceptibility to tumours. The pleiotropic effects of ectopic agouti expression are presumably due to effects of the paracrine signal on other tissues.	Mus musculus house mouse - (species)	Mus musculus house mouse - (species) D	Agouti (ASIP)	Mus musculus house mouse - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (skin)	Cis-regulatory, Unknown	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Yu S; Wang G; Liao J (2019) Association of a novel SNP in the ASIP gene with skin color in black-bone chicken.	GP00002130	Asip Q03288	Morphology		Gallus gallus chicken - (species)	Gallus gallus chicken - (species)	Agouti (ASIP)	Gallus gallus chicken - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Coding, SNP	Vicugna pacos alpaca - (species) D	Domesticated	Candidate Gene	Chandramohan B; Renieri C; La Manna V ; et al. (2013) The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomela[...]	GP00002336	Asip Q03288	Morphology	p.R98C likely affecting conformation in a cysteine-rich domain	Vicugna pacos alpaca - (species)	Vicugna pacos alpaca - (species) D	Agouti (ASIP)	Vicugna pacos alpaca - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Cis-regulatory, Insertion	Bubalus bubalis water buffalo - (species) D	Domesticated	Association Mapping	Liang D; Zhao P; Si J ; et al. (2021) Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buff[...]	GP00002370	Asip Q03288	Morphology	"2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe."	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D	Agouti (ASIP)	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat; dorso-ventral)	Coding, Insertion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Letko A; Ammann B; Jagannathan V ; et al. (2020) A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]	GP00002373	Asip Q03288	Morphology	"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	Agouti (ASIP)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Association Mapping	Guo J; Sun X; Mao A ; et al. (2022) A 13.42-kb tandem duplication at the ASIP locus is strongly associated with the depigmentation pheno[...]	GP00002380	Asip Q03288	Morphology	"We confirmed that a genomic region harboring the ASIP gene is a major locus affecting the coat color phenotype of Swiss markings in goats. Although the molecular genetic mechanisms remain unsolved, the 13,420-bp duplication upstream of ASIP is a necessary but not sufficient condition for this phenotype in goats. Moreover, the variations in the copy number of the duplication across different goat breeds do not lead to phenotypic heterogeneity."	Capra hircus goat - (species)	Capra hircus goat - (species) D	Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Henkel J; Dubacher A; Bangerter E ; et al. (2021) Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.	GP00002381	Asip Q03288	Morphology	"The white Capra Sempione carried one copy of the AWt allele, which is commonly found in Saanen and Appenzell goats. AWt involves a triplication of ~155 kb comprising the coding sequence of the ASIP, AHCY and ITCH genes (Fontanesi et al. 2009; Henkel et al. 2019). Closer inspection of the short-read alignments revealed that the sequenced Capra Sempione had acquired additional smaller structural alterations compared to the original AWt allele, which comprised a duplication of 1053 bp inserted into a 10 194 bp deletion of the original AWt CNV allele (Supplementary Figure S1)."	Capra hircus goat - (species)	Capra hircus goat - (species) D	Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator
Agouti (ASIP)	Coloration (coat)	Gene Amplification, Insertion	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Henkel J; Dubacher A; Bangerter E ; et al. (2021) Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.	GP00002382	Asip Q03288	Morphology	"The greyish Grüenochte goat carried one copy of the Apc allele, which causes the characteristic black and white pattern of Swiss Peacock goats (Henkel et al. 2019). The Apc allele consists of a central quadruplication of ~45 kb with triplicated adjacent flanking regions comprising ~28 kb and ~42 kb, respectively."	Capra hircus goat - (species)	Capra hircus goat - (species) D	Agouti (ASIP)	Capra hircus goat - (species)	Published - Accepted by Curator