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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Parkinson's disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28348719 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Parkinson's disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28348719 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7834747 | PMID:8125298 | PMID:9321400 | PMID:9873016 | PMID:10048485 | PMID:12477932 | PMID:14702039 | PMID:15489334 | PMID:15603737 | PMID:16344560 | PMID:19001729 | PMID:19615732 |
PMID:19913121 | PMID:19946888 | PMID:20473970 | PMID:20628086 | PMID:20819778 | PMID:20855536 | PMID:21131737 | PMID:21145461 | PMID:21358815 | PMID:21630459 | PMID:21873635 | PMID:21988832 |
PMID:22678362 | PMID:22863883 | PMID:23448667 | PMID:23667531 | PMID:23891004 | PMID:24255178 | PMID:24270810 | PMID:24366813 | PMID:24475098 | PMID:24510904 | PMID:24947832 | PMID:24981860 |
PMID:25006867 | PMID:25036637 | PMID:25056061 | PMID:25144556 | PMID:25416956 | PMID:25499913 | PMID:25515538 | PMID:25754235 | PMID:26186194 | PMID:26288249 | PMID:26496610 | PMID:26972000 |
PMID:27217568 | PMID:27571739 | PMID:27571744 | PMID:27684187 | PMID:27807478 | PMID:27880917 | PMID:28065597 | PMID:28330616 | PMID:28380382 | PMID:28443643 | PMID:28514442 | PMID:28515276 |
PMID:29229926 | PMID:29507755 | PMID:29513927 | PMID:29568061 | PMID:29911972 | PMID:29987050 | PMID:30166453 | PMID:30455355 | PMID:30472188 | PMID:30699358 | PMID:30833792 | PMID:31515488 |
PMID:31586073 | PMID:31787745 | PMID:31948758 | PMID:32060556 | PMID:32238831 | PMID:32296183 | PMID:32350057 | PMID:32552912 | PMID:32583430 | PMID:32707033 | PMID:32850835 | PMID:32877691 |
PMID:33060197 | PMID:33085644 | PMID:33186656 | PMID:33239621 | PMID:33481351 | PMID:33567341 | PMID:33845483 | PMID:33957083 | PMID:33961781 | PMID:34126157 | PMID:34240781 | PMID:34591612 |
PMID:34709727 | PMID:35007762 | PMID:35044787 | PMID:35140242 | PMID:35271311 | PMID:35337019 | PMID:35384245 | PMID:35446349 | PMID:35509820 | PMID:35563538 | PMID:35676246 | PMID:35792897 |
PMID:35831314 | PMID:36114006 | PMID:36215168 |
BAG5 (Homo sapiens - human) |
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Bag5 (Mus musculus - house mouse) |
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Bag5 (Rattus norvegicus - Norway rat) |
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Bag5 (Chinchilla lanigera - long-tailed chinchilla) |
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BAG5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BAG5 (Canis lupus familiaris - dog) |
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Bag5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BAG5 (Sus scrofa - pig) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BAG5 (Chlorocebus sabaeus - green monkey) |
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Bag5 (Heterocephalus glaber - naked mole-rat) |
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Variants in BAG5
13 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 | copy number loss | See cases [RCV000050938] | Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 | copy number loss | See cases [RCV000050696] | Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 | copy number loss | See cases [RCV000051578] | Chr14:101994084..106855405 [GRCh38] Chr14:102460421..107263620 [GRCh37] Chr14:101530174..106334665 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 | copy number loss | See cases [RCV000051579] | Chr14:102210395..104449321 [GRCh38] Chr14:102676732..104926965 [GRCh37] Chr14:101746485..103998010 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 | copy number loss | See cases [RCV000051580] | Chr14:102584963..104898605 [GRCh38] Chr14:103051300..105364942 [GRCh37] Chr14:102121053..104435987 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] | Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 | copy number loss | See cases [RCV000051113] | Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 | copy number gain | See cases [RCV000052295] | Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] | Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 | copy number gain | See cases [RCV000052294] | Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 | copy number gain | See cases [RCV000052296] | Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 | copy number loss | See cases [RCV000133831] | Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 | copy number gain | See cases [RCV000134000] | Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 | copy number gain | See cases [RCV000135410] | Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 | copy number gain | See cases [RCV000135400] | Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 | copy number gain | See cases [RCV000135875] | Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 | copy number gain | See cases [RCV000135543] | Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 | copy number gain | See cases [RCV000135896] | Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 | copy number loss | See cases [RCV000136032] | Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33 |
pathogenic |
GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1 | copy number loss | See cases [RCV000136893] | Chr14:103003736..103557569 [GRCh38] Chr14:103470073..104023906 [GRCh37] Chr14:102539826..103093659 [NCBI36] Chr14:14q32.32-32.33 |
uncertain significance |
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 | copy number gain | See cases [RCV000138230] | Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 | copy number loss | See cases [RCV000139633] | Chr14:101925670..106876323 [GRCh38] Chr14:102392007..107284531 [GRCh37] Chr14:101461760..106355576 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 | copy number loss | See cases [RCV000141932] | Chr14:102239422..106877229 [GRCh38] Chr14:102705759..107285437 [GRCh37] Chr14:101775512..106356482 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 | copy number loss | See cases [RCV000142453] | Chr14:101665602..106855263 [GRCh38] Chr14:102131939..107263478 [GRCh37] Chr14:101201692..106334523 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 | copy number gain | See cases [RCV000142593] | Chr14:103322414..106855263 [GRCh38] Chr14:103788751..107263478 [GRCh37] Chr14:102858504..106334523 [NCBI36] Chr14:14q32.32-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 | copy number gain | See cases [RCV000143373] | Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 | copy number loss | See cases [RCV000143154] | Chr14:102605096..106879298 [GRCh38] Chr14:103071433..107287505 [GRCh37] Chr14:102141186..106358550 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3 | copy number gain | See cases [RCV000143756] | Chr14:103332197..104435594 [GRCh38] Chr14:103798534..104901931 [GRCh37] Chr14:102868287..103972976 [NCBI36] Chr14:14q32.32-32.33 |
uncertain significance |
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 | copy number loss | See cases [RCV000143662] | Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) | copy number loss | not provided [RCV000767716] | Chr14:103804791..105677579 [GRCh37] Chr14:14q32.32-32.33 |
likely pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) | copy number gain | not provided [RCV000767752] | Chr14:100575917..107281934 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 | copy number loss | See cases [RCV000446081] | Chr14:103711336..107285437 [GRCh37] Chr14:14q32.32-32.33 |
pathogenic |
GRCh37/hg19 14q32.32-32.33(chr14:103566945-104053697)x1 | copy number loss | See cases [RCV000446810] | Chr14:103566945..104053697 [GRCh37] Chr14:14q32.32-32.33 |
pathogenic|uncertain significance |
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 | copy number gain | See cases [RCV000446497] | Chr14:98051841..107285437 [GRCh37] Chr14:14q32.2-32.33 |
likely pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 | copy number gain | See cases [RCV000446256] | Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 | copy number gain | See cases [RCV000448557] | Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1 | copy number loss | See cases [RCV000448868] | Chr14:103390060..104436909 [GRCh37] Chr14:14q32.32-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 | copy number loss | See cases [RCV000510629] | Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) | copy number gain | See cases [RCV000512041] | Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 | copy number loss | See cases [RCV000511801] | Chr14:103965059..107285437 [GRCh37] Chr14:14q32.32-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 | copy number loss | See cases [RCV000511171] | Chr14:100661319..107285437 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 | copy number loss | See cases [RCV000511173] | Chr14:102670706..107285437 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 | copy number gain | See cases [RCV000512497] | Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 | copy number gain | not provided [RCV000683623] | Chr14:102191861..106019451 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 | copy number gain | not provided [RCV000738413] | Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 | copy number gain | not provided [RCV000738414] | Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 | copy number gain | not provided [RCV000738412] | Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 | copy number loss | not provided [RCV000848417] | Chr14:101627916..107147698 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 | copy number loss | not provided [RCV000847188] | Chr14:102931119..107285437 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 | copy number gain | not provided [RCV000849272] | Chr14:99794230..107285437 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 | copy number loss | See cases [RCV001195078] | Chr14:96829290..107287663 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 | copy number gain | not provided [RCV000848687] | Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33 |
pathogenic |
NC_000014.8:g.(?_102228231)_(105861009_?)dup | duplication | Charcot-Marie-Tooth disease axonal type 2O [RCV003107389] | Chr14:102228231..105861009 [GRCh37] Chr14:14q32.31-32.33 |
uncertain significance |
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 | copy number loss | not provided [RCV001006656] | Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 | copy number loss | not provided [RCV001259801] | Chr14:102615953..107285437 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
NC_000014.8:g.(?_103336539)_(105861009_?)dup | duplication | not provided [RCV002239722] | Chr14:103336539..105861009 [GRCh37] Chr14:14q32.32-32.33 |
uncertain significance |
NC_000014.8:g.(?_102442029)_(105861009_?)del | deletion | Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] | Chr14:102442029..105861009 [GRCh37] Chr14:14q32.31-32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.18dup (p.His7fs) | duplication | Cardiomyopathy, dilated, 2F [RCV001836659] | Chr14:103561146..103561147 [GRCh38] Chr14:104027483..104027484 [GRCh37] Chr14:14q32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) | copy number loss | not specified [RCV002052456] | Chr14:101732158..107285437 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 | copy number loss | not provided [RCV001829204] | Chr14:101593860..106160500 [GRCh37] Chr14:14q32.31-32.33 |
pathogenic |
NM_001015048.3(BAG5):c.589C>T (p.Arg197Ter) | single nucleotide variant | Cardiomyopathy, dilated, 2F [RCV001836657] | Chr14:103560576 [GRCh38] Chr14:104026913 [GRCh37] Chr14:14q32.33 |
pathogenic |
NM_001015048.3(BAG5):c.1168C>T (p.Arg390Ter) | single nucleotide variant | Cardiomyopathy, dilated, 2F [RCV001836658] | Chr14:103559997 [GRCh38] Chr14:104026334 [GRCh37] Chr14:14q32.33 |
pathogenic |
NC_000014.8:g.(?_103148212)_(105861009_?)del | deletion | not provided [RCV002000609] | Chr14:103148212..105861009 [GRCh37] Chr14:14q32.31-32.33 |
uncertain significance |
NC_000014.8:g.(?_102229222)_(105861009_?)dup | duplication | not provided [RCV003120748] | Chr14:102229222..105861009 [GRCh37] Chr14:14q32.31-32.33 |
uncertain significance |
Single allele | deletion | Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] | Chr14:102573453..103575949 [GRCh38] Chr14:14q32.31-32.33 |
pathogenic |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 | copy number gain | See cases [RCV002286356] | Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 | copy number gain | not provided [RCV002472581] | Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33 |
pathogenic |
NM_001015048.3(BAG5):c.1168C>G (p.Arg390Gly) | single nucleotide variant | Inborn genetic diseases [RCV002776965] | Chr14:103559997 [GRCh38] Chr14:104026334 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.82A>G (p.Ile28Val) | single nucleotide variant | Inborn genetic diseases [RCV002751998] | Chr14:103561083 [GRCh38] Chr14:104027420 [GRCh37] Chr14:14q32.33 |
likely benign |
NM_001015048.3(BAG5):c.607C>T (p.Leu203Phe) | single nucleotide variant | Inborn genetic diseases [RCV002687466] | Chr14:103560558 [GRCh38] Chr14:104026895 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.1292C>T (p.Ala431Val) | single nucleotide variant | Inborn genetic diseases [RCV002997294] | Chr14:103559873 [GRCh38] Chr14:104026210 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.-29+693C>T | single nucleotide variant | Inborn genetic diseases [RCV002859650] | Chr14:103561923 [GRCh38] Chr14:104028260 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.-29+670C>T | single nucleotide variant | Inborn genetic diseases [RCV002910721] | Chr14:103561946 [GRCh38] Chr14:104028283 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.1114G>A (p.Val372Ile) | single nucleotide variant | Inborn genetic diseases [RCV002797873] | Chr14:103560051 [GRCh38] Chr14:104026388 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.812G>A (p.Arg271Lys) | single nucleotide variant | Inborn genetic diseases [RCV002698891] | Chr14:103560353 [GRCh38] Chr14:104026690 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.223A>G (p.Thr75Ala) | single nucleotide variant | Inborn genetic diseases [RCV002930329] | Chr14:103560942 [GRCh38] Chr14:104027279 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.389T>C (p.Ile130Thr) | single nucleotide variant | Inborn genetic diseases [RCV002717871] | Chr14:103560776 [GRCh38] Chr14:104027113 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.1063del (p.Arg355fs) | deletion | not provided [RCV003090009] | Chr14:103560102 [GRCh38] Chr14:104026439 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.746T>C (p.Ile249Thr) | single nucleotide variant | Inborn genetic diseases [RCV002722532] | Chr14:103560419 [GRCh38] Chr14:104026756 [GRCh37] Chr14:14q32.33 |
uncertain significance |
NM_001015048.3(BAG5):c.321_322del (p.Lys108fs) | microsatellite | Cardiomyopathy [RCV003224082] | Chr14:103560843..103560844 [GRCh38] Chr14:104027180..104027181 [GRCh37] Chr14:14q32.33 |
likely pathogenic |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D14S1221 |
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RH69364 |
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RH48083 |
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BAG5_3934 |
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D15S1477 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2283 | 1495 | 1300 | 286 | 1219 | 129 | 3843 | 1240 | 2750 | 367 | 1424 | 1599 | 170 | 1199 | 2277 | 4 | ||
Low | 156 | 1490 | 426 | 338 | 726 | 336 | 513 | 957 | 983 | 52 | 36 | 14 | 5 | 1 | 5 | 511 | 2 | 2 |
Below cutoff | 6 | 6 | 1 |
RefSeq Transcripts | NM_001015048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001015049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_004873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA481394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB020680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB105186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB362576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF095195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL139300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC044216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC050551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF941752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG719955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI561258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA424706 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB022769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB457402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000299204 ⟹ ENSP00000299204 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000337322 ⟹ ENSP00000338814 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000445922 ⟹ ENSP00000391713 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557666 ⟹ ENSP00000450497 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001015048 ⟹ NP_001015048 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001015049 ⟹ NP_001015049 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_004873 ⟹ NP_004864 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001015048 | (Get FASTA) | NCBI Sequence Viewer |
NP_001015049 | (Get FASTA) | NCBI Sequence Viewer | |
NP_004864 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD16124 | (Get FASTA) | NCBI Sequence Viewer |
AAH44216 | (Get FASTA) | NCBI Sequence Viewer | |
AAH50551 | (Get FASTA) | NCBI Sequence Viewer | |
BAA74896 | (Get FASTA) | NCBI Sequence Viewer | |
BAF81541 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84001 | (Get FASTA) | NCBI Sequence Viewer | |
BAQ19754 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81826 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81827 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81828 | (Get FASTA) | NCBI Sequence Viewer | |
Q9UL15 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001015048 ⟸ NM_001015048 |
- UniProtKB: | Q86W59 (UniProtKB/Swiss-Prot), Q9UL15 (UniProtKB/Swiss-Prot), A0A024R6M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_004864 ⟸ NM_004873 |
- UniProtKB: | Q86W59 (UniProtKB/Swiss-Prot), Q9UL15 (UniProtKB/Swiss-Prot), A0A024R6M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001015049 ⟸ NM_001015049 |
- UniProtKB: | Q86W59 (UniProtKB/Swiss-Prot), A0A024R6M6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000450497 ⟸ ENST00000557666 |
RefSeq Acc Id: | ENSP00000338814 ⟸ ENST00000337322 |
RefSeq Acc Id: | ENSP00000299204 ⟸ ENST00000299204 |
RefSeq Acc Id: | ENSP00000391713 ⟸ ENST00000445922 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UL15-F1-model_v2 | AlphaFold | Q9UL15 | 1-447 | view protein structure |
RGD ID: | 6791298 | ||||||||
Promoter ID: | HG_KWN:20327 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000409074, NM_001015048, NM_001015049, NM_004873, OTTHUMT00000333062, OTTHUMT00000333063, OTTHUMT00000333064, OTTHUMT00000333065, OTTHUMT00000333066, OTTHUMT00000333067, OTTHUMT00000333068, OTTHUMT00000333069, OTTHUMT00000333071, UC001YNL.2 | ||||||||
Position: |
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RGD ID: | 7228713 | ||||||||
Promoter ID: | EPDNEW_H20103 | ||||||||
Type: | initiation region | ||||||||
Name: | BAG5_1 | ||||||||
Description: | BCL2 associated athanogene 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H20105 EPDNEW_H20108 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7228719 | ||||||||
Promoter ID: | EPDNEW_H20105 | ||||||||
Type: | initiation region | ||||||||
Name: | BAG5_2 | ||||||||
Description: | BCL2 associated athanogene 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H20103 EPDNEW_H20108 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:941 | AgrOrtholog |
COSMIC | BAG5 | COSMIC |
Ensembl Genes | ENSG00000166170 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000299204 | ENTREZGENE |
ENSP00000299204.4 | UniProtKB/Swiss-Prot | |
ENSP00000338814 | ENTREZGENE | |
ENSP00000338814.5 | UniProtKB/Swiss-Prot | |
ENSP00000391713 | ENTREZGENE | |
ENSP00000391713.2 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000299204 | ENTREZGENE |
ENST00000299204.6 | UniProtKB/Swiss-Prot | |
ENST00000337322 | ENTREZGENE | |
ENST00000337322.5 | UniProtKB/Swiss-Prot | |
ENST00000445922 | ENTREZGENE | |
ENST00000445922.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.20.58.120 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000166170 | GTEx |
HGNC ID | HGNC:941 | ENTREZGENE |
Human Proteome Map | BAG5 | Human Proteome Map |
InterPro | BAG_chaperone_regulator | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BAG_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
BAG_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9529 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 9529 | ENTREZGENE |
OMIM | 603885 | OMIM |
PANTHER | BAG FAMILY MOLECULAR CHAPERONE REGULATOR 5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12329 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BAG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA25241 | PharmGKB |
PROSITE | BAG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | BAG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF63491 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A024R6M6 | ENTREZGENE, UniProtKB/TrEMBL |
A8CGI4_HUMAN | UniProtKB/TrEMBL | |
BAG5_HUMAN | UniProtKB/Swiss-Prot | |
Q86W59 | ENTREZGENE | |
Q9UL15 | ENTREZGENE | |
UniProt Secondary | O94950 | UniProtKB/Swiss-Prot |
Q86W59 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-10-16 | BAG5 | BAG cochaperone 5 | BAG5 | BCL2 associated athanogene 5 | Symbol and/or name change | 5135510 | APPROVED |
2015-11-24 | BAG5 | BCL2 associated athanogene 5 | BCL2-associated athanogene 5 | Symbol and/or name change | 5135510 | APPROVED | |
2011-09-01 | BAG5 | BCL2-associated athanogene 5 | BAG5 | BCL2-associated athanogene 5 | Symbol and/or name change | 5135510 | APPROVED |