Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: EGFR ENSG00000146648

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Description

epidermal growth factor receptor [Source:HGNC Symbol;Acc:HGNC:3236]

Synonyms

ERBB1, ERBB

Location

Chromosome 7: 55,019,021-55,211,628 forward strand.

GRCh38:CM000669.2

About this gene

This gene has 11 transcripts (splice variants), 79 orthologues, 13 paralogues, is a member of 1 Ensembl protein family and is associated with 67 phenotypes.

Transcripts

Show transcript tableHide transcript table

Name	Transcript ID	bp	Protein	Translation ID	Biotype	CCDS	UniProt	RefSeq	Flags
EGFR-201	ENST00000275493.6	9821	1210aa	ENSP00000275493	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS5514	P00533	NM_005228 NP_001333827 NP_001333829 NP_005219	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic<p>PRINCIPAL1 - APPRIS candidate principal isoform.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS P1
EGFR-203	ENST00000344576.6	2864	705aa	ENSP00000345973	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS5515	P00533	NM_201284 NP_958441	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic
EGFR-202	ENST00000342916.7	2239	628aa	ENSP00000342376	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS5516	P00533	NM_201282 NP_958439	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic
EGFR-204	ENST00000420316.6	1570	405aa	ENSP00000413843	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS47587	P00533	NM_201283 NP_958440	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic
EGFR-206	ENST00000454757.6	5464	1165aa	ENSP00000395243	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	E9PFD7	NP_001333828	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic
EGFR-211	ENST00000638463.1	4735	464aa	ENSP00000492462	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	-	-	The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic
EGFR-207	ENST00000455089.5	3844	1091aa	ENSP00000415559	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	Q504U8	NM_001346897 NP_001333826	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic
EGFR-205	ENST00000450046.1	691	128aa	ENSP00000413354	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	C9JYS6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete<p>Transcript Support Level 4, for transcripts supported by an EST flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:4
EGFR-209	ENST00000463948.1	561	No protein	-	<p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript	-	-	-	<p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3
EGFR-208	ENST00000459688.1	452	No protein	-	<p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript	-	-	-	<p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3
EGFR-210	ENST00000485503.1	665	No protein	-	<p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron	-	-	-	<p>Transcript Support Level 4, for transcripts supported by an EST flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:4

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Summary

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Gene-based displays