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.

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Your research retrieved 18 results.

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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 (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
EGFR	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001537	EGFR P00533	Morphology	A>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	EGFR	Homo sapiens human - (species)	Published - Accepted by Curator
EIF2S2	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001359	EIF2S2 P20042	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EIF2S2	Homo sapiens human - (species)	Published - Accepted by Curator
GSS (glutathione synthetase)	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001362	GSS P48637	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GSS (glutathione synthetase)	Homo sapiens human - (species)	Published - Accepted by Curator
IRF4	Coloration (skin)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Praetorius C; Grill C; Stacey SN ; et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...] 1 Additional References Visser M; Palstra RJ; Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping o[...]	GP00001364	IRF4 Q15306	Morphology	a C>T substitution in intron4 located within an enhancer	Homo sapiens human - (species)	Homo sapiens human - (species) D	IRF4	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007) A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.	GP00000630	MC1R Q01726	Morphology	Arg307Gly	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, Insertion N	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Kijas JM; Moller M; Plastow G ; et al. (2001) A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...] 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000631	MC1R Q01726	Morphology	2bp insertion at 23 generates early stop @ 56 & D"121"N ? N	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000632	MC1R Q01726	Morphology	V"92"M actually at 95	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000633	MC1R Q01726	Morphology	D"121"N Actually 124	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000634	MC1R Q01726	Morphology	A"161"V actually 164	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000635	MC1R Q01726	Morphology	L"99" P Actually 102	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000636	MC1R Q01726	Morphology	A"240"T actually 243	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MFSD12	Coloration (skin)	Coding, SNP N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Adhikari K; Mendoza-Revilla J; Sohail A ; et al. (2019) A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasi[...] 1 Additional References Crawford NG; Kelly DE; Hansen MEB (2017) Loci associated with skin pigmentation identified in African populations.	GP00002245	MFSD12 Q6NUT3	Morphology	Y182H N	Homo sapiens human - (species)	Homo sapiens human - (species) D	MFSD12	Homo sapiens human - (species)	Published - Accepted by Curator
MFSD12	Coloration (skin)	Cis-regulatory, Complex Change N	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Crawford NG; Kelly DE; Hansen MEB ; et al. (2017) Loci associated with skin pigmentation identified in African populations.	GP00002246	MFSD12 Q6NUT3	Morphology	eight potentially causal SNPs cluster in two regions: one within MFSD12 (intronic SNP and synonymous SNP in exon 9) and the other ~7600 to 9000 base pairs (bp) upstream of MFSD12 ; many SNPs are in predicted regulatory regions active in melanocytes and/or keratinocytes show enhancer activity in luciferase expression assays N	Homo sapiens human - (species)	Homo sapiens human - (species) D	MFSD12	Homo sapiens human - (species)	Published - Accepted by Curator
Oca2	Coloration (skin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Edwards M; Bigham A; Tan J ; et al. (2010) Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...] 1 Additional References Yang Z; Zhong H; Chen J (2016) A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.	GP00000748	Oca2 Q62052	Morphology	His615Arg	Homo sapiens human - (species)	Homo sapiens human - (species) D	Oca2	Homo sapiens human - (species)	Published - Accepted by Curator
OPRM1	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001536	OPRM1 P35372	Morphology	C>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	OPRM1	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin)	Coding, Deletion	Megaptera novaeangliae humpback whale - (species) D	Intraspecific	Candidate Gene	Polanowski AM; Robinson-Laverick SM; Paton D ; et al. (2012 Jan-Feb) Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).	GP00002314	Tyr P11344	Morphology	(264 del C) at codon 88	Megaptera novaeangliae humpback whale - (species)	Megaptera novaeangliae humpback whale - (species) D	tyrosinase (TYR)	Megaptera novaeangliae humpback whale - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin)	Coding, SNP	Fejervarya kawamurai (species) D	Intraspecific	Candidate Gene	Miura I; Tagami M; Fujitani T ; et al. (2018) Spontaneous tyrosinase mutations identified in albinos of three wild frog species.	GP00002321	Tyr P11344	Morphology	c.169G>A p.Gly57Arg	Fejervarya kawamurai (species)	Fejervarya kawamurai (species) D	tyrosinase (TYR)	Fejervarya kawamurai (species)	Published - Accepted by Curator