ENST00000219596.6 MEFV
Information
- Transcript ID
- ENST00000219596.6
- Genome
- hg38
- Position
- chr16:3,242,027-3,256,633
- Strand
- -
- CDS length
- 2,346
- Amino acid length
- 782
- Gene symbol
- MEFV
- Gene type
- protein-coding
- Gene description
- MEFV innate immunity regulator, pyrin
- Gene Entrez Gene ID
- 4210
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 |
|---|---|---|
| 10 | 3,242,027 | 3,243,694 |
| 9 | 3,243,860 | 3,243,892 |
| 8 | 3,244,254 | 3,244,286 |
| 7 | 3,244,473 | 3,244,588 |
| 6 | 3,246,525 | 3,246,547 |
| 5 | 3,247,016 | 3,247,246 |
| 4 | 3,248,909 | 3,249,004 |
| 3 | 3,249,431 | 3,249,780 |
| 2 | 3,254,158 | 3,254,790 |
| 1 | 3,256,311 | 3,256,633 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 10 | CDS | 3,243,141 | 3,243,694 |
| 9 | CDS | 3,243,860 | 3,243,892 |
| 8 | CDS | 3,244,254 | 3,244,286 |
| 7 | CDS | 3,244,473 | 3,244,588 |
| 6 | CDS | 3,246,525 | 3,246,547 |
| 5 | CDS | 3,247,016 | 3,247,246 |
| 4 | CDS | 3,248,909 | 3,249,004 |
| 3 | CDS | 3,249,431 | 3,249,780 |
| 2 | CDS | 3,254,158 | 3,254,790 |
| 1 | CDS | 3,256,311 | 3,256,587 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr16 | 3,292,027 | 3,306,633 | Link |
CDS sequence
ATGGCTAAGACCCCTAGTGACCATCTGCTGTCCACCCTGGAGGAGCTGGTGCCCTATGACTTCGAGAAGTTCAAGTTCAAGCTGCAGAACACCAGTGTGCAGAAGGAGCACTCCAGGATCCCCCGGAGCCAGATCCAGAGAGCCAGGCCGGTGAAGATGGCCACTCTGCTGGTCACCTACTATGGGGAAGAGTACGCCGTGCAGCTCACCCTGCAGGTCCTGCGGGCCATCAACCAGCGCCTGCTGGCCGAGGAGCTCCACAGGGCAGCCATTCAGGAATATTCCACACAAGAAAACGGCACAGATGATTCCGCAGCGTCCAGCTCCCTGGGGGAGAACAAGCCCAGGAGCCTGAAGACTCCAGACCACCCCGAGGGGAACGAGGGGAACGGCCCTCGGCCGTACGGGGGCGGAGCTGCCAGCCTGCGGTGCAGCCAGCCCGAGGCCGGGAGGGGGCTGTCGAGGAAGCCCCTGAGCAAACGCAGAGAGAAGGCCTCGGAGGGCCTGGACGCGCAGGGCAAGCCTCGGACCCGGAGCCCGGCCCTGCCGGGCGGGAGAAGCCCCGGCCCCTGCAGGGCGCTAGAGGGGGGCCAGGCCGAGGTCCGGCTGCGCAGAAACGCCAGCTCCGCGGGGAGGCTGCAGGGGCTGGCGGGGGGCGCCCCGGGGCAGAAGGAGTGCAGGCCCTTCGAAGTGTACCTGCCCTCGGGAAAGATGCGACCTAGAAGCCTTGAGGTCACCATTTCTACAGGGGAGAAGGCGCCCGCAAATCCAGAAATTCTCCTGACTCTAGAGGAAAAGACAGCTGCGAATCTGGACTCGGCAACAGAACCCCGGGCAAGGCCCACTCCGGATGGAGGGGCATCTGCGGACCTGAAGGAAGGCCCTGGAAATCCAGAACATTCGGTCACCGGAAGGCCACCAGACACGGCTGCGAGTCCCCGCTGCCACGCCCAGGAAGGAGACCCAGTTGACGGTACCTGTGTGCGTGATTCCTGCAGCTTCCCCGAGGCAGTTTCTGGGCACCCCCAGGCCTCAGGCAGCCGCTCACCTGGCTGCCCCCGGTGCCAGGACTCCCATGAAAGGAAGAGCCCGGGAAGCCTAAGCCCCCAGCCCCTGCCACAGTGTAAGCGCCACCTGAAGCAGGTCCAGCTGCTCTTCTGTGAGGATCACGATGAGCCCATCTGCCTCATCTGCAGTCTGAGTCAGGAGCACCAAGGCCACCGGGTGCGCCCCATTGAGGAGGTCGCCCTGGAACACAAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGAAACAAACTGAAGCGCTGAAGCAGCGGGTGCAGAGGAAGCTGGAGCAGGTGTACTACTTCCTGGAGCAGCAAGAGCATTTCTTTGTGGCCTCACTGGAGGACGTGGGCCAGATGGTTGGGCAGATCAGGAAGGCATATGACACCCGCGTATCCCAGGACATCGCCCTGCTCGATGCGCTGATTGGGGAACTGGAGGCCAAGGAGTGCCAGTCAGAATGGGAACTTCTGCAGGACATTGGAGACATCTTGCACAGGGCTAAGACAGTGCCTGTCCCTGAAAAGTGGACCACTCCTCAAGAGATAAAACAAAAGATCCAACTCCTCCACCAGAAGTCAGAGTTTGTGGAGAAGAGCACAAAGTACTTCTCAGAAACCCTGCGTTCAGAAATGGAAATGTTCAATGTTCCGGAGCTGATTGGCGCTCAGGCACATGCTGTTAATGTGATTCTGGATGCAGAAACCGCTTACCCCAACCTCATCTTCTCTGATGATCTGAAGAGTGTTAGACTTGGAAACAAGTGGGAGAGGCTGCCTGATGGCCCGCAAAGATTTGACAGCTGTATCATTGTTCTGGGCTCTCCGAGTTTCCTCTCTGGCCGCCGTTACTGGGAGGTGGAGGTTGGAGACAAGACAGCATGGATCCTGGGAGCCTGCAAGACATCCATAAGCAGGAAAGGGAACATGACTCTGTCGCCAGAGAATGGCTACTGGGTGGTGATAATGATGAAGGAAAATGAGTACCAGGCGTCCAGCGTTCCCCCGACCCGCCTGCTAATAAAGGAGCCTCCCAAGCGTGTGGGCATCTTCGTGGACTACAGAGTTGGAAGCATCTCCTTTTACAATGTGACAGCCAGATCCCACATCTATACATTCGCCAGCTGCTCTTTCTCTGGGCCCCTTCAACCTATCTTCAGCCCTGGGACACGTGATGGAGGGAAGAACACAGCTCCTCTGACTATCTGTCCAGTGGGTGGTCAGGGGCCTGACTGA
Amino sequence
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD*