Characterizing excision repair cross-complementing family genes as drug resistance biomarkers in breast cancer

Hermawan, Adam; Putri, Herwandhani

doi:10.1186/s43088-023-00415-3

Beni-Suef University Journal of Basic and Applied Sciences

Table 2 Functional prediction of the mutant ERCC, as analyzed using cBioportal

From: Characterizing excision repair cross-complementing family genes as drug resistance biomarkers in breast cancer

Gene	Protein Change	Functional Impact	Copy
ERCC1	E370K	MutationAssessor: impact: neutral, score: -0.345;SIFT: NA;Polyphen-2: NA	Amplification
	E444Q	MutationAssessor: impact: low, score: 1.59;SIFT: NA;Polyphen-2: NA	Gain
	S109L	MutationAssessor: impact: neutral, score: -0.69;SIFT: NA;Polyphen-2: NA	Gain
	P495S	MutationAssessor: impact: low, score: 1.7;SIFT: NA;Polyphen-2: NA	Amplification
	298Sext1	MutationAssessor: NA;SIFT: NA;Polyphen-2: NA	Amplification
	R330G	MutationAssessor: impact: low, score: 1.895;SIFT: NA;Polyphen-2: NA	Gain
	R330M	MutationAssessor: impact: low, score: 1.895;SIFT: NA;Polyphen-2: NA	Gain
ERCC2	X272_splice	MutationAssessor: NA;SIFT: NA;Polyphen-2: NA	Gain
	R380W	MutationAssessor: impact: low, score: 1.83;SIFT: NA;Polyphen-2: NA	Shallow Deletion
	L406V	MutationAssessor: impact: medium, score: 3.16;SIFT: NA;Polyphen-2: NA	Diploid
ERCC3	I194M	MutationAssessor: impact: high, score: 3.54;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983	Amplification
	I194M	MutationAssessor: impact: high, score: 3.54;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983	Diploid
	I194M	MutationAssessor: impact: high, score: 3.54;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983	Diploid
ERCC4	E647D	MutationAssessor: impact: low, score: 1.08;SIFT: impact: tolerated, score: 0.63;Polyphen-2: impact: benign, score: 0.015	Amplification
ERCC5	R1072T	MutationAssessor: impact: medium, score: 2.36;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.617	Gain
	M208T	MutationAssessor: impact: medium, score: 2.535;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.994	Shallow Deletion
	L6H	MutationAssessor: impact: high, score: 3.69;SIFT: NA;Polyphen-2: NA	Shallow Deletion
ERCC6	R670W	MutationAssessor: impact: high, score: 4.78;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1	Shallow Deletion
	R670W	MutationAssessor: impact: high, score: 4.78;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1	Gain
	M1140I	MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: benign, score: 0	Diploid
	E370K	MutationAssessor: impact: medium, score: 2.425;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.417	Gain
ERCC8	R270K	MutationAssessor: impact: low, score: 1.225;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: possibly_damaging, score: 0.667	Diploid

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