ENST00000359794.11 PFKM
Information
- Transcript ID
- ENST00000359794.11
- Genome
- hg38
- Position
- chr12:48,119,364-48,146,404
- Strand
- +
- CDS length
- 2,343
- Amino acid length
- 781
- Gene symbol
- PFKM
- Gene type
- protein-coding
- Gene description
- phosphofructokinase, muscle
- Gene Entrez Gene ID
- 5213
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 1 | 48,119,364 | 48,119,406 |
| 2 | 48,122,767 | 48,122,859 |
| 3 | 48,130,363 | 48,130,436 |
| 4 | 48,131,316 | 48,131,393 |
| 5 | 48,132,868 | 48,133,057 |
| 6 | 48,133,315 | 48,133,480 |
| 7 | 48,134,232 | 48,134,276 |
| 8 | 48,134,721 | 48,134,829 |
| 9 | 48,134,943 | 48,135,038 |
| 10 | 48,135,291 | 48,135,383 |
| 11 | 48,137,721 | 48,137,846 |
| 12 | 48,139,285 | 48,139,349 |
| 13 | 48,139,849 | 48,139,912 |
| 14 | 48,140,722 | 48,140,871 |
| 15 | 48,141,311 | 48,141,381 |
| 16 | 48,141,740 | 48,141,827 |
| 17 | 48,141,914 | 48,142,066 |
| 18 | 48,142,782 | 48,142,946 |
| 19 | 48,143,753 | 48,143,814 |
| 20 | 48,144,046 | 48,144,157 |
| 21 | 48,145,031 | 48,145,130 |
| 22 | 48,145,210 | 48,145,315 |
| 23 | 48,145,564 | 48,146,404 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 48,122,775 | 48,122,859 |
| 3 | CDS | 48,130,363 | 48,130,436 |
| 4 | CDS | 48,131,316 | 48,131,393 |
| 5 | CDS | 48,132,868 | 48,133,057 |
| 6 | CDS | 48,133,315 | 48,133,480 |
| 7 | CDS | 48,134,232 | 48,134,276 |
| 8 | CDS | 48,134,721 | 48,134,829 |
| 9 | CDS | 48,134,943 | 48,135,038 |
| 10 | CDS | 48,135,291 | 48,135,383 |
| 11 | CDS | 48,137,721 | 48,137,846 |
| 12 | CDS | 48,139,285 | 48,139,349 |
| 13 | CDS | 48,139,849 | 48,139,912 |
| 14 | CDS | 48,140,722 | 48,140,871 |
| 15 | CDS | 48,141,311 | 48,141,381 |
| 16 | CDS | 48,141,740 | 48,141,827 |
| 17 | CDS | 48,141,914 | 48,142,066 |
| 18 | CDS | 48,142,782 | 48,142,946 |
| 19 | CDS | 48,143,753 | 48,143,814 |
| 20 | CDS | 48,144,046 | 48,144,157 |
| 21 | CDS | 48,145,031 | 48,145,130 |
| 22 | CDS | 48,145,210 | 48,145,315 |
| 23 | CDS | 48,145,564 | 48,145,708 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr12 | 48,513,147 | 48,540,187 | Link |
CDS sequence
ATGACCCATGAAGAGCACCATGCAGCCAAAACCCTGGGGATTGGCAAAGCCATTGCTGTCTTAACCTCTGGTGGAGATGCCCAAGGTATGAATGCTGCTGTCAGGGCTGTGGTTCGAGTTGGTATCTTCACCGGTGCCCGTGTCTTCTTTGTCCATGAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGGAGGCACGGTGATTGGAAGTGCCCGGTGCAAGGACTTTCGGGAACGAGAAGGACGACTCCGAGCTGCCTACAACCTGGTGAAGCGTGGGATCACCAATCTCTGTGTCATTGGGGGTGATGGCAGCCTCACTGGGGCTGACACCTTCCGTTCTGAGTGGAGTGACTTGTTGAGTGACCTCCAGAAAGCAGGTAAGATCACAGATGAGGAGGCTACGAAGTCCAGCTACCTGAACATTGTGGGCCTGGTTGGGTCAATTGACAATGACTTCTGTGGCACCGATATGACCATTGGCACTGACTCTGCCCTGCATCGGATCATGGAAATTGTAGATGCCATCACTACCACTGCCCAGAGCCACCAGAGGACATTTGTGTTAGAAGTAATGGGCCGCCACTGTGGATACCTGGCCCTTGTCACCTCTCTGTCCTGTGGGGCCGACTGGGTTTTTATTCCTGAATGTCCACCAGATGACGACTGGGAGGAACACCTTTGTCGCCGACTCAGCGAGACAAGGACCCGTGGTTCTCGTCTCAACATCATCATTGTGGCTGAGGGTGCAATTGACAAGAATGGAAAACCAATCACCTCAGAAGACATCAAGAATCTGGTGGTTAAGCGTCTGGGATATGACACCCGGGTTACTGTCTTGGGGCATGTGCAGAGGGGTGGGACGCCATCAGCCTTTGACAGAATTCTGGGCAGCAGGATGGGTGTGGAAGCAGTGATGGCACTTTTGGAGGGGACCCCAGATACCCCAGCCTGTGTAGTGAGCCTCTCTGGTAACCAGGCTGTGCGCCTGCCCCTCATGGAATGTGTCCAGGTGACCAAAGATGTGACCAAGGCCATGGATGAGAAGAAATTTGACGAAGCCCTGAAGCTGAGAGGCCGGAGCTTCATGAACAACTGGGAGGTGTACAAGCTTCTAGCTCATGTCAGACCCCCGGTATCTAAGAGTGGTTCGCACACAGTGGCTGTGATGAACGTGGGGGCTCCGGCTGCAGGCATGAATGCTGCTGTTCGCTCCACTGTGAGGATTGGCCTTATCCAGGGCAACCGAGTGCTCGTTGTCCATGATGGTTTCGAGGGCCTGGCCAAGGGGCAGATAGAGGAAGCTGGCTGGAGCTATGTTGGGGGCTGGACTGGCCAAGGTGGCTCTAAACTTGGGACTAAAAGGACTCTACCCAAGAAGAGCTTTGAACAGATCAGTGCCAATATAACTAAGTTTAACATTCAGGGCCTTGTCATCATTGGGGGCTTTGAGGCTTACACAGGGGGCCTGGAACTGATGGAGGGCAGGAAGCAGTTTGATGAGCTCTGCATCCCATTTGTGGTCATTCCTGCTACAGTCTCCAACAATGTCCCTGGCTCAGACTTCAGCGTTGGGGCTGACACAGCACTCAATACTATCTGCACAACCTGTGACCGCATCAAGCAGTCAGCAGCTGGCACCAAGCGTCGGGTGTTTATCATTGAGACTATGGGTGGCTACTGTGGCTACCTGGCTACCATGGCTGGACTGGCAGCTGGGGCCGATGCTGCCTACATTTTTGAGGAGCCCTTCACCATTCGAGACCTGCAGGCAAATGTTGAACATCTGGTGCAAAAGATGAAAACAACTGTGAAAAGGGGCTTGGTGTTAAGGAATGAAAAGTGCAATGAGAACTATACCACTGACTTCATTTTCAACCTGTACTCTGAGGAGGGGAAGGGCATCTTCGACAGCAGGAAGAATGTGCTTGGTCACATGCAGCAGGGTGGGAGCCCAACCCCATTTGATAGGAATTTTGCCACTAAGATGGGCGCCAAGGCTATGAACTGGATGTCTGGGAAAATCAAAGAGAGTTACCGTAATGGGCGGATCTTTGCCAATACTCCAGATTCGGGCTGTGTTCTGGGGATGCGTAAGAGGGCTCTGGTCTTCCAACCAGTGGCTGAGCTGAAGGACCAGACAGATTTTGAGCATCGAATCCCCAAGGAACAGTGGTGGCTGAAACTGAGGCCCATCCTCAAAATCCTAGCCAAGTACGAGATTGACTTGGACACTTCAGACCATGCCCACCTGGAGCACATCACCCGGAAGCGGTCCGGGGAAGCTGCCGTCTAA
Amino sequence
MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV*