ENST00000528950.1 AMBRA1
Information
- Transcript ID
- ENST00000528950.1
- Genome
- hg19
- Position
- chr11:46,419,000-46,615,595
- Strand
- -
- CDS length
- 3,810
- Amino acid length
- 1,270
- Gene symbol
- AMBRA1
- Gene type
- protein-coding
- Gene description
- autophagy and beclin 1 regulator 1
- Gene Entrez Gene ID
- 55626
Variants
Display target variant
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
---|---|---|
17 | 46,419,000 | 46,419,493 |
16 | 46,430,063 | 46,430,256 |
15 | 46,431,826 | 46,431,918 |
14 | 46,439,463 | 46,439,602 |
13 | 46,455,024 | 46,455,178 |
12 | 46,456,399 | 46,456,587 |
11 | 46,465,038 | 46,465,148 |
10 | 46,515,158 | 46,515,258 |
9 | 46,515,674 | 46,515,754 |
8 | 46,529,741 | 46,529,920 |
7 | 46,563,495 | 46,564,948 |
6 | 46,565,525 | 46,565,591 |
5 | 46,567,154 | 46,567,326 |
4 | 46,568,663 | 46,568,846 |
3 | 46,569,367 | 46,569,425 |
2 | 46,569,796 | 46,570,004 |
1 | 46,615,378 | 46,615,595 |
CDS
Exon number | Type | Start | Stop |
---|---|---|---|
17 | CDS | 46,419,000 | 46,419,493 |
16 | CDS | 46,430,063 | 46,430,256 |
15 | CDS | 46,431,826 | 46,431,918 |
14 | CDS | 46,439,463 | 46,439,602 |
13 | CDS | 46,455,024 | 46,455,178 |
12 | CDS | 46,456,399 | 46,456,587 |
11 | CDS | 46,465,038 | 46,465,148 |
10 | CDS | 46,515,158 | 46,515,258 |
9 | CDS | 46,515,674 | 46,515,754 |
8 | CDS | 46,529,741 | 46,529,920 |
7 | CDS | 46,563,495 | 46,564,948 |
6 | CDS | 46,565,525 | 46,565,591 |
5 | CDS | 46,567,154 | 46,567,326 |
4 | CDS | 46,568,663 | 46,568,846 |
3 | CDS | 46,569,367 | 46,569,425 |
2 | CDS | 46,569,796 | 46,569,930 |
Other genome
Genome | Chromosome | Start | End | Links |
---|---|---|---|---|
hg38 | chr11 | 46,397,450 | 46,594,045 | Link |
CDS sequence
ATGAAGGTTGTCCCAGAAAAGAATGCTGTCCGGATACTCTGGGGGCGAGAACGGGGTGCTCGGGCCATGGGAGCTCAGCGGCTTCTGCAGGAGCTGGTAGAAGATAAAACCCGGTGGATGAAATGGGAGGGCAAGAGAGTAGAACTGCCGGATAGTCCACGCTCTACCTTCTTATTGGCCTTCAGCCCAGACAGGACTCTCTTAGCCTCCACCCATGTGAACCATAATATCTATATTACGGAGGTGAAGACTGGCAAGTGTGTTCATTCCCTGATTGGACACCGCCGTACTCCATGGTGTGTCACTTTTCATCCCACCATCTCAGGCCTTATTGCTTCTGGCTGCCTAGATGGGGAGGTTAGGATTTGGGATTTACACGGTGGCAGTGAAAGCTGGTTCACAGATAGCAACAATGCCATTGCCTCCCTGGCTTTCCACCCTACGGCTCAGCTCCTGCTGATTGCCACTGCCAATGAGATCCACTTCTGGGACTGGAGTCGACGGGAACCCTTTGCTGTGGTGAAGACAGCTAGTGAGATGGAACGGGTCCGTCTGGTGAGATTTGATCCACTTGGACACTACTTACTCACAGCAATTGTTAACCCCTCTAATCAACAGGGTGATGACGAACCAGAGATCCCCATAGATGGAACAGAATTATCCCACTACCGTCAGCGTGCCCTCCTGCAATCACAGCCAGTTCGCCGGACGCCTCTCCTCCACAATTTCCTGCACATGCTGTCCTCCCGCTCTTCTGGCATCCAGGTGGGAGAGCAAAGCACAGTGCAAGATTCTGCTACCCCCTCACCCCCACCGCCTCCCCCTCAGCCCTCCACGGAGCGCCCCAGGACTTCCGCTTACATCAGGCTCCGACAGCGGGTCAGTTACCCCACAGCTGAGTGCTGCCAGCACCTTGGGATCCTGTGCCTTTGCAGCCGCTGCTCTGGCACTCGAGTTCCTTCCCTCTTGCCACACCAGGACAGTGTCCCCCCTGCTTCTGCCAGAGCTACTACCCCTTCCTTTTCTTTTGTACAGACCGAGCCCTTCCATCCCCCGGAGCAGGCCTCGTCAACGCAGCAGGACCAGGGCCTCCTGAACCGGCCGTCTGCCTTCAGTACAGTCCAGAGCAGCACTGCCGGCAACACGCTCCGCAACCTCAGTCTGGGTCCTACCCGCCGCTCTTTGGGAGGGCCTCTGTCTAGCCACCCTTCTAGGTATCACCGAGAAATAGCTCCTGGGTTGACAGGATCTGAGTGGACCCGGACAGTACTCAGTCTGAACTCCCGCTCTGAGGCGGAATCCATGCCCCCGCCCAGAACCAGTGCCTCTTCGGTGAGTTTGCTGTCTGTGCTGAGACAGCAGGAAGGTGGCTCTCAGGCATCTGTGTACACTTCAGCCACAGAAGGGAGGGGTTTTCCGGCATCAGGGTTGGCAACTGAGTCAGATGGAGGGAATGGCTCCAGCCAAAACAACTCGGGCAGCATTCGCCATGAGCTTCAGTGTGACCTGAGACGCTTCTTTCTGGAGTATGACCGGCTTCAGGAGCTGGATCAGAGCCTGAGTGGGGAAGCTCCCCAGACCCAACAGGCCCAGGAAATGCTCAACAATAACATTGAATCTGAGAGGCCAGGCCCTTCCCACCAGCCCACCCCACACAGCAGTGAGAACAACTCCAACCTGTCCCGTGGCCACCTGAATCGCTGTCGTGCTTGCCACAATCTCCTGACCTTCAACAACGATACCCTGCGCTGGGAAAGAACCACACCTAACTACTCCTCTGGCGAGGCTAGTTCCTCTTGGCAGGTCCCCAGCTCCTTTGAGAGTGTGCCATCAAGTGGCAGCCAGTTGCCACCTCTCGAGCGGACTGAGGGCCAAACGCCCAGCTCCAGCAGGCTGGAGTTGAGCAGCTCTGCTAGTCCGCAGGAGGAGAGGACTGTGGGGGTGGCCTTTAACCAGGAGACAGGCCACTGGGAAAGAATTTACACCCAGTCCAGCAGATCTGGAACTGTGTCACAGGAGGCCTTACATCAGGATATGCCTGAGGAGAGCTCTGAGGAGGATTCACTCAGGAGATTATCTCCTGCTGCATACTACGCCCAGAGGATGATCCAGTATCTCTCACGGAGAGACAGTATTCGCCAGCGCTCCATGCGCTACCAACAGAACCGTCTCCGTTCTTCCACCTCCTCCTCTTCCTCAGACAACCAGGGTCCATCAGTAGAGGGAACCGACTTGGAATTTGAGGACTTTGAGGACAATGGTGACAGATCCAGGCACCGAGCTCCACGCAATGCCCGGATGTCTGCACCTTCGCTTGGACGCTTTGTCCCAAGGCGTTTCTTGCTGCCTGAGTACTTGCCTTATGCTGGGATTTTTCATGAACGTGGACAGCCTGGCTTGGCTACTCACTCTTCTGTTAACAGGGTCCTGGCAGGGGCAGTGATCGGTGATGGACAGTCTGCTGTGGCCAGTAACATTGCCAATACTACCTACCGGCTCCAGTGGTGGGACTTCACTAAGTTTGACCTCCCTGAAATCAGTAATGCTTCCGTGAATGTGCTGGTGCAGAACTGCAAGATCTACAATGATGCCAGCTGTGACATTTCTGCAGATGGCCAGCTCCTGGCAGCTTTCATCCCCAGCAGCCAGAGGGGCTTTCCTGATGAAGGCATCCTGGCAGTGTACTCCCTGGCCCCCCATAACCTGGGCGAAATGCTCTACACCAAGCGATTTGGTCCCAATGCCATTTCGGTGAGCCTGTCCCCAATGGGCAGATATGTAATGGTGGGCTTGGCCTCACGAAGGATCCTGCTGCACCCCTCCACAGAGCACATGGTGGCCCAGGTCTTCAGGCTGCAACAGGCCCATGGTGGAGAGACCTCCATGAGGAGAGTTTTCAACGTCCTTTATCCCATGCCTGCCGACCAGCGGAGACATGTCAGTATCAACTCTGCCCGTTGGCTGCCTGAGCCAGGGCTTGGCTTGGCCTATGGTACTAACAAAGGAGACCTGGTGATCTGCCGACCAGAGGCCTTAAACTCTGGTGTTGAGTACTACTGGGACCAGCTGAACGAGACGGTCTTCACTGTCCATTCCAACAGCAGGAGCAGCGAGCGGCCTGGAACCAGCAGAGCCACATGGAGGACAGACAGAGACATGGGGCTGATGAATGCCATTGGGCTTCAGCCCCGGAACCCTGCCACCTCAGTGACATCTCAGGGCACCCAGACTCTGGCCCTTCAGCTGCAGAATGCCGAAACACAGACTGAGAGGGAGGTGCCGGAGCCAGGGACAGCCGCCTCAGGTCCTGGTGAAGGTGAGGGTTCAGAGTATGGTGCCAGTGGAGAAGATGCGCTCAGCAGGATCCAGAGGCTGATGGCGGAGGGCGGCATGACAGCCGTGGTGCAGCGGGAGCAGAGCACCACCATGGCCTCCATGGGCGGCTTCGGCAACAACATCATCGTCAGCCACCGCATTCACCGCAGCTCTCAGACGGGCACTGAACCTGGTGCCGCCCACACCTCCTCACCCCAGCCCTCCACCTCTCGGGGACTGCTCCCAGAGGCCGGGCAACTGGCAGAGCGAGGCCTAAGCCCCCGGACAGCTTCCTGGGACCAGCCTGGTACCCCTGGGCGGGAGCCAACCCAGCCAACCCTGCCCTCTTCCTCCCCTGTCCCCATTCCTGTTTCCCTTCCCAGCGCTGAGGGACCAACCCTCCACTGCGAGTTGACCAATAACAACCACCTTCTGGATGGTGGCAGCAGCAGGGGGGACGCTGCAGGCCCTAGGGGAGAACCACGGAACAGGTAG
Amino sequence
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLAFSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEVRIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEMERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLLHNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAECCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLRRLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFEDFEDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNRVLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISADGQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGLASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWLPEPGLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWRTDRDMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEGSEYGASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTEPGAAHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIPVSLPSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR*