Cosmic » Mutation » Overview » GTF2A1 »p.N133H / c.397A>C

This tab shows an overview of the mutation data [more details]
Gene Name:
GTF2A1
Mutation Id:
COSM197049
AA Mutation:
p.N133H ( Substitution - Missense )
CDS Mutation:
c.397A>C ( Substitution )
GRCh37:
Ensembl Contig View 14:81667938..81667948
Cancer Genome Browser:
COSMIC GBrowse 14:81667938..81667948
CDD:
NP_963889.1
Ever confirmed somatic:
Yes
This tab displays the distribution of mutated samples and tissue types. [more details]
This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene name Transcript Primary Tissue Histology Pubmed ID Zygosity Somatic Status
This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
PF03153 Pfam TFIIA:12-376 12 376 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :TFIIA:12-376( 12- 376 )
P52655 Pfam low_complexity:129-145 129 145 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :low_complexity:129-145( 129- 145 )
P52655 Pfam-B_16724 Pfam-B_16724 69 348 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :Pfam-B_16724( 69- 348 )
P52655 TFIIA TFIIA 12 376 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :TFIIA( 12- 376 )
P52655 PTHR12694:SF7 PTHR12694:SF7 4 376 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :PTHR12694:SF7( 4- 376 )
P52655 PTHR12694 PTHR12694 4 376 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :PTHR12694( 4- 376 )
P52655 UniProt:curator Transcription initiation factor IIA subunit 1 1 376 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :Transcription initiation factor IIA subunit 1( 1- 376 )
P52655 UniProt:curator Transcription initiation factor IIA alpha chain 1 274 Overlap 100.00
GTF2A1 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 P52655 MANSANTNTVPKLYRSVIEDVINDVRDIFLDDGVDEQVLMELKTLWENKLMQSRAVDGFH 60 GTF2A1 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 P52655 SEEQQLLLQVQQQHQPQQQQHHHHHHHQQAQPQQTVPQQAQTQQVLIPASQQATAPQVIV 120 GTF2A1 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 P52655 PDSKLIQHMNASNMSAAATAATLALPAGVTPVQQILTNSGQLLQVVRAANGAQYIFQPQQ 180 GTF2A1 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 P52655 SVVLQQQVIPQMQPGGVQAPVIQQVLAPLPGGISPQTGVIIQPQQILFTGNKTQVIPTTV 240 GTF2A1 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 P52655 AAPTPAQAQITATGQQQPQAQPAQTQAPLVLQVDGTGDTSSEEDEDEEEDYDDDEEEDKE 300 GTF2A1 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 P52655 KDGAEDGQVEEEPLNSEDDVSDEEGQELFDTENVVVCQYDKIHRSKNKWKFHLKDGIMNL 360 GTF2A1 NGRDYIFSKAIGDAEW P52655 NGRDYIFSKAIGDAEW

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Wildtype Residue : N Mutant Position : 133 Mutant label : p.N133H Feature Name :Transcription initiation factor IIA alpha chain( 1- 274 )
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed