ENST00000350028.5 SAMM50
Information
- Transcript ID
- ENST00000350028.5
- Genome
- hg19
- Position
- chr22:44,351,322-44,392,409
- Strand
- +
- CDS length
- 1,410
- Amino acid length
- 470
- Gene symbol
- SAMM50
- Gene type
- protein-coding
- Gene description
- SAMM50 sorting and assembly machinery component
- Gene Entrez Gene ID
- 25813
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 | 44,351,322 | 44,351,478 |
| 2 | 44,359,166 | 44,359,276 |
| 3 | 44,360,332 | 44,360,433 |
| 4 | 44,364,611 | 44,364,698 |
| 5 | 44,368,116 | 44,368,222 |
| 6 | 44,368,751 | 44,368,881 |
| 7 | 44,369,116 | 44,369,203 |
| 8 | 44,371,935 | 44,372,063 |
| 9 | 44,372,630 | 44,372,701 |
| 10 | 44,373,752 | 44,373,838 |
| 11 | 44,377,271 | 44,377,341 |
| 12 | 44,379,813 | 44,379,880 |
| 13 | 44,384,991 | 44,385,137 |
| 14 | 44,386,145 | 44,386,286 |
| 15 | 44,392,218 | 44,392,409 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 44,351,458 | 44,351,478 |
| 2 | CDS | 44,359,166 | 44,359,276 |
| 3 | CDS | 44,360,332 | 44,360,433 |
| 4 | CDS | 44,364,611 | 44,364,698 |
| 5 | CDS | 44,368,116 | 44,368,222 |
| 6 | CDS | 44,368,751 | 44,368,881 |
| 7 | CDS | 44,369,116 | 44,369,203 |
| 8 | CDS | 44,371,935 | 44,372,063 |
| 9 | CDS | 44,372,630 | 44,372,701 |
| 10 | CDS | 44,373,752 | 44,373,838 |
| 11 | CDS | 44,377,271 | 44,377,341 |
| 12 | CDS | 44,379,813 | 44,379,880 |
| 13 | CDS | 44,384,991 | 44,385,137 |
| 14 | CDS | 44,386,145 | 44,386,286 |
| 15 | CDS | 44,392,218 | 44,392,263 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr22 | 43,955,442 | 43,996,529 | Link |
CDS sequence
ATGGGGACTGTGCACGCCCGGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGATTAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATTTTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGGAAATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCACTTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGCAGTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGTATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGAGCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTATGGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGAATGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCACAGCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGCCAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCCAAAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAACTTAATTACTGCGTCCCCATGGGAGTACAGACAGGCGACAGGATATGTGATGGCGTCCAGTTTGGAGCTGGGATAAGGTTCCTGTAG
Amino sequence
MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAECIRWSYGAGIVLRLGNIARLELNYCVPMGVQTGDRICDGVQFGAGIRFL*