Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RPL26 | Human | Diamond-Blackfan anemia 11 | | IAGP | | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RPL26 | Human | Diamond-Blackfan anemia 11 | | IAGP | | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Structures of the human and Drosophila 80S ribosome. | Anger AM, etal., Nature. 2013 May 2;497(7447):80-5. doi: 10.1038/nature12104. |
2. | An overview of pre-ribosomal RNA processing in eukaryotes. | Henras AK, etal., Wiley Interdiscip Rev RNA. 2015 Mar-Apr;6(2):225-42. doi: 10.1002/wrna.1269. Epub 2014 Oct 27. |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:7821789 | PMID:8479925 | PMID:8722009 | PMID:9582194 | PMID:11401437 | PMID:11790298 | PMID:11875025 | PMID:12477932 | PMID:12777385 | PMID:12962325 | PMID:14567916 | PMID:15189156 |
PMID:15489334 | PMID:16169070 | PMID:16213212 | PMID:17353931 | PMID:17361185 | PMID:17620599 | PMID:18457437 | PMID:18697920 | PMID:18951086 | PMID:19615732 | PMID:19738201 | PMID:19946888 |
PMID:20020773 | PMID:20301769 | PMID:20458337 | PMID:20542919 | PMID:20562864 | PMID:21045808 | PMID:21081503 | PMID:21145461 | PMID:21280222 | PMID:21319273 | PMID:21873635 | PMID:21988832 |
PMID:22190735 | PMID:22431104 | PMID:22433872 | PMID:22586326 | PMID:22623428 | PMID:22681889 | PMID:22863883 | PMID:22868929 | PMID:23084401 | PMID:23169665 | PMID:23246001 | PMID:23398456 |
PMID:23443559 | PMID:23463506 | PMID:24457600 | PMID:24625528 | PMID:24965446 | PMID:25324306 | PMID:25437307 | PMID:25662211 | PMID:25723396 | PMID:25963833 | PMID:26100019 | PMID:26186194 |
PMID:26344197 | PMID:26381412 | PMID:26527279 | PMID:26549023 | PMID:26687066 | PMID:26725010 | PMID:26990986 | PMID:27025967 | PMID:27101085 | PMID:27432908 | PMID:27503909 | PMID:27545878 |
PMID:27552055 | PMID:27684187 | PMID:27825141 | PMID:27976729 | PMID:28288992 | PMID:28514442 | PMID:28515276 | PMID:28524877 | PMID:28533407 | PMID:28581483 | PMID:28927264 | PMID:28977470 |
PMID:28977666 | PMID:29117863 | PMID:29128334 | PMID:29229926 | PMID:29298432 | PMID:29568061 | PMID:29721183 | PMID:29773831 | PMID:29802200 | PMID:29845934 | PMID:29991511 | PMID:30021884 |
PMID:30097533 | PMID:30154076 | PMID:30320910 | PMID:30344098 | PMID:30459231 | PMID:30463901 | PMID:30626644 | PMID:30804502 | PMID:30884312 | PMID:30890647 | PMID:30997501 | PMID:31048545 |
PMID:31059266 | PMID:31091453 | PMID:31180492 | PMID:31253590 | PMID:31363146 | PMID:31405213 | PMID:31476572 | PMID:31586073 | PMID:31640799 | PMID:31980649 | PMID:32041737 | PMID:32129710 |
PMID:32249768 | PMID:32669547 | PMID:32687490 | PMID:32788342 | PMID:32807901 | PMID:32929329 | PMID:33001583 | PMID:33194618 | PMID:33226137 | PMID:33277362 | PMID:33301849 | PMID:33306668 |
PMID:33378683 | PMID:33644029 | PMID:33729478 | PMID:33838681 | PMID:33916271 | PMID:33957083 | PMID:33961781 | PMID:33989516 | PMID:34029587 | PMID:34091597 | PMID:34133714 | PMID:34185411 |
PMID:34316702 | PMID:34316707 | PMID:34349018 | PMID:34373451 | PMID:34428256 | PMID:34619150 | PMID:34650049 | PMID:35012549 | PMID:35013218 | PMID:35063084 | PMID:35140242 | PMID:35235311 |
PMID:35256949 | PMID:35338135 | PMID:35439318 | PMID:35446349 | PMID:35563538 | PMID:35575683 | PMID:35676659 | PMID:35819319 | PMID:35850772 | PMID:35915203 | PMID:35944360 | PMID:36114006 |
PMID:36199071 | PMID:36215168 | PMID:36307841 | PMID:36424410 | PMID:36517590 | PMID:36526897 | PMID:36537216 | PMID:36574265 | PMID:36597993 | PMID:36779763 | PMID:36848233 | PMID:36880596 |
PMID:36912080 | PMID:36931259 | PMID:37071682 | PMID:37211047 | PMID:37249651 | PMID:37314216 | PMID:37317656 | PMID:37616343 | PMID:37689310 | PMID:37827155 | PMID:37845327 | PMID:38113892 |
PMID:38172120 | PMID:38334954 | PMID:38569033 | PMID:39066279 |
RPL26 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rpl26 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rpl26 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rpl26 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RPL26 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RPL26 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rpl26 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RPL26 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RPL26 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rpl26 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in RPL26
71 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) | deletion | Diamond-Blackfan anemia 11 [RCV000032955] | Chr17:8382190..8382191 [GRCh38] Chr17:8285508..8285509 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] | Chr17:7750804..10112969 [GRCh38] Chr17:7654122..10016286 [GRCh37] Chr17:7594847..9957011 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] | Chr17:6307904..8842949 [GRCh38] Chr17:6211224..8746266 [GRCh37] Chr17:6151948..8686991 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 | copy number loss | See cases [RCV000053426] | Chr17:7478195..8435524 [GRCh38] Chr17:7381514..8338842 [GRCh37] Chr17:7322238..8279567 [NCBI36] Chr17:17p13.1 |
pathogenic |
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 | copy number gain | See cases [RCV000134851] | Chr17:5732953..12095349 [GRCh38] Chr17:5636273..11998666 [GRCh37] Chr17:5576997..11939391 [NCBI36] Chr17:17p13.2-12 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 | copy number gain | See cases [RCV000138531] | Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 | copy number gain | See cases [RCV000141063] | Chr17:7967712..8490279 [GRCh38] Chr17:7871030..8393597 [GRCh37] Chr17:7811755..8334322 [NCBI36] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 | copy number gain | See cases [RCV000142236] | Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) | single nucleotide variant | Diamond-Blackfan anemia [RCV000230178] | Chr17:8379846 [GRCh38] Chr17:8283164 [GRCh37] Chr17:17p13.1 |
likely pathogenic|uncertain significance |
NC_000017.11:g.(?_7669603)_(8382316_?)del | deletion | Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] | Chr17:7669603..8382316 [GRCh38] Chr17:7572921..8285634 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7966164-8338622)x3 | copy number gain | See cases [RCV000447606] | Chr17:7966164..8338622 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 | copy number loss | See cases [RCV000445992] | Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7929776-9995862)x3 | copy number gain | See cases [RCV000447853] | Chr17:7929776..9995862 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_8280834)_(8283254_?)dup | duplication | Diamond-Blackfan anemia [RCV000465764] | Chr17:8377516..8379936 [GRCh38] Chr17:8280834..8283254 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 | copy number gain | See cases [RCV000511388] | Chr17:7431013..9868179 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 | copy number gain | See cases [RCV000511786] | Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
NM_000987.5(RPL26):c.-5-16_-5-15del | deletion | Diamond-Blackfan anemia 11 [RCV002491279]|not specified [RCV000608204] | Chr17:8382330..8382331 [GRCh38] Chr17:8285648..8285649 [GRCh37] Chr17:17p13.1 |
benign|likely benign |
NM_000987.5(RPL26):c.96C>T (p.Ser32=) | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV002506331]|Diamond-Blackfan anemia [RCV000535338] | Chr17:8382215 [GRCh38] Chr17:8285533 [GRCh37] Chr17:17p13.1 |
benign|likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3 | copy number gain | not provided [RCV000683885] | Chr17:8219814..8676240 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 | copy number gain | not provided [RCV000683866] | Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000987.5(RPL26):c.310-49T>G | single nucleotide variant | not provided [RCV001692576] | Chr17:8377741 [GRCh38] Chr17:8281059 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.168+63A>G | single nucleotide variant | not provided [RCV001708063] | Chr17:8382080 [GRCh38] Chr17:8285398 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.168+211del | deletion | not provided [RCV001641886] | Chr17:8381932 [GRCh38] Chr17:8285250 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.255G>A (p.Val85=) | single nucleotide variant | Diamond-Blackfan anemia [RCV000870327] | Chr17:8379850 [GRCh38] Chr17:8283168 [GRCh37] Chr17:17p13.1 |
likely benign |
NC_000017.11:g.(?_8228170)_(8382320_?)dup | duplication | Diamond-Blackfan anemia [RCV001343466]|Dyskeratosis congenita [RCV001033786] | Chr17:8131488..8285638 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.342C>T (p.Asp114=) | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV002507528]|Diamond-Blackfan anemia [RCV003103882] | Chr17:8377660 [GRCh38] Chr17:8280978 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.153G>A (p.Lys51=) | single nucleotide variant | Diamond-Blackfan anemia [RCV000809374] | Chr17:8382158 [GRCh38] Chr17:8285476 [GRCh37] Chr17:17p13.1 |
likely benign|uncertain significance |
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 | copy number gain | not provided [RCV000848522] | Chr17:7676383..8350870 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.11:g.(?_7669599)_(8382320_?)del | deletion | Li-Fraumeni syndrome [RCV000803922] | Chr17:7669599..8382320 [GRCh38] Chr17:7572917..8285638 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_000987.5(RPL26):c.168+210_168+211del | deletion | not provided [RCV001714611] | Chr17:8381932..8381933 [GRCh38] Chr17:8285250..8285251 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.168+9C>G | single nucleotide variant | not provided [RCV000913452] | Chr17:8382134 [GRCh38] Chr17:8285452 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.169-232C>G | single nucleotide variant | not provided [RCV001666335] | Chr17:8380168 [GRCh38] Chr17:8283486 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.377G>A (p.Arg126His) | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV002480706]|Diamond-Blackfan anemia [RCV001215912]|not specified [RCV001819905] | Chr17:8377625 [GRCh38] Chr17:8280943 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly) | single nucleotide variant | Diamond-Blackfan anemia [RCV001324526] | Chr17:8377643 [GRCh38] Chr17:8280961 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.169-5C>G | single nucleotide variant | Diamond-Blackfan anemia [RCV001340451] | Chr17:8379941 [GRCh38] Chr17:8283259 [GRCh37] Chr17:17p13.1 |
likely benign|uncertain significance |
NC_000017.10:g.(?_8192101)_(8283260_?)dup | duplication | Diamond-Blackfan anemia [RCV001372152] | Chr17:8192101..8283260 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.24T>C (p.Thr8=) | single nucleotide variant | Diamond-Blackfan anemia [RCV001400125] | Chr17:8382287 [GRCh38] Chr17:8285605 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) | single nucleotide variant | Diamond-Blackfan anemia [RCV001444757]|RPL26-related disorder [RCV003946161]|not specified [RCV003151321] | Chr17:8382183 [GRCh38] Chr17:8285501 [GRCh37] Chr17:17p13.1 |
likely benign|uncertain significance |
NM_000987.5(RPL26):c.384A>T (p.Val128=) | single nucleotide variant | Diamond-Blackfan anemia [RCV001436665] | Chr17:8377618 [GRCh38] Chr17:8280936 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.327A>G (p.Leu109=) | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV002501757]|Diamond-Blackfan anemia [RCV001510863] | Chr17:8377675 [GRCh38] Chr17:8280993 [GRCh37] Chr17:17p13.1 |
benign|likely benign |
NM_000987.5(RPL26):c.169-125G>C | single nucleotide variant | not provided [RCV001684376] | Chr17:8380061 [GRCh38] Chr17:8283379 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.168+261A>G | single nucleotide variant | not provided [RCV001769731] | Chr17:8381882 [GRCh38] Chr17:8285200 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.168+188A>T | single nucleotide variant | not provided [RCV001787588] | Chr17:8381955 [GRCh38] Chr17:8285273 [GRCh37] Chr17:17p13.1 |
likely benign |
NC_000017.11:g.8377343TCT[2] | microsatellite | not provided [RCV001776538] | Chr17:8377341..8377343 [GRCh38] Chr17:8280659..8280661 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.130G>T (p.Val44Leu) | single nucleotide variant | Diamond-Blackfan anemia [RCV001995046]|RPL26-related disorder [RCV004731217] | Chr17:8382181 [GRCh38] Chr17:8285499 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_8131498)_(8285628_?)dup | duplication | Diamond-Blackfan anemia [RCV003107905]|Dyskeratosis congenita [RCV001950640] | Chr17:8131498..8285628 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.139A>G (p.Met47Val) | single nucleotide variant | Diamond-Blackfan anemia [RCV001877614] | Chr17:8382172 [GRCh38] Chr17:8285490 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) | single nucleotide variant | Diamond-Blackfan anemia [RCV001872142] | Chr17:8377641 [GRCh38] Chr17:8280959 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser) | single nucleotide variant | Diamond-Blackfan anemia [RCV002041547] | Chr17:8382214 [GRCh38] Chr17:8285532 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.341del (p.Asp114fs) | deletion | Diamond-Blackfan anemia 11 [RCV001825205] | Chr17:8377661 [GRCh38] Chr17:8280979 [GRCh37] Chr17:17p13.1 |
not provided |
GRCh37/hg19 17p13.1(chr17:7241916-8692213) | copy number loss | not specified [RCV002052586] | Chr17:7241916..8692213 [GRCh37] Chr17:17p13.1 |
pathogenic |
GRCh37/hg19 17p13.1(chr17:7929776-9995862) | copy number gain | not specified [RCV002052588] | Chr17:7929776..9995862 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.145A>G (p.Ile49Val) | single nucleotide variant | Diamond-Blackfan anemia [RCV001981890] | Chr17:8382166 [GRCh38] Chr17:8285484 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NC_000017.10:g.(?_8136214)_(8285628_?)del | deletion | Diamond-Blackfan anemia [RCV001963287] | Chr17:8136214..8285628 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_000987.5(RPL26):c.288C>T (p.His96=) | single nucleotide variant | Diamond-Blackfan anemia [RCV002076044] | Chr17:8379817 [GRCh38] Chr17:8283135 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.168+17G>A | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV002486950]|Diamond-Blackfan anemia [RCV002130782] | Chr17:8382126 [GRCh38] Chr17:8285444 [GRCh37] Chr17:17p13.1 |
benign|likely benign |
NM_000987.5(RPL26):c.276C>A (p.Gly92=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003115827] | Chr17:8379829 [GRCh38] Chr17:8283147 [GRCh37] Chr17:17p13.1 |
likely benign |
NC_000017.10:g.(?_7571752)_(8285628_?)del | deletion | Li-Fraumeni syndrome [RCV003111422] | Chr17:7571752..8285628 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_000987.5(RPL26):c.-5-204A>G | single nucleotide variant | not provided [RCV002285810] | Chr17:8382519 [GRCh38] Chr17:8285837 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.-5-164C>T | single nucleotide variant | not provided [RCV002285783] | Chr17:8382479 [GRCh38] Chr17:8285797 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.72C>T (p.His24=) | single nucleotide variant | Diamond-Blackfan anemia [RCV002382760] | Chr17:8382239 [GRCh38] Chr17:8285557 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.309+18T>C | single nucleotide variant | Diamond-Blackfan anemia [RCV002614902] | Chr17:8379778 [GRCh38] Chr17:8283096 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.169-16T>C | single nucleotide variant | Diamond-Blackfan anemia [RCV002754937] | Chr17:8379952 [GRCh38] Chr17:8283270 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln) | single nucleotide variant | Diamond-Blackfan anemia [RCV002637352] | Chr17:8377653 [GRCh38] Chr17:8280971 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr) | single nucleotide variant | Diamond-Blackfan anemia [RCV002593399] | Chr17:8377631 [GRCh38] Chr17:8280949 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.168+18T>G | single nucleotide variant | Diamond-Blackfan anemia [RCV002696279] | Chr17:8382125 [GRCh38] Chr17:8285443 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.369C>T (p.Ala123=) | single nucleotide variant | Diamond-Blackfan anemia [RCV002640311] | Chr17:8377633 [GRCh38] Chr17:8280951 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.300C>T (p.His100=) | single nucleotide variant | Diamond-Blackfan anemia [RCV002785808] | Chr17:8379805 [GRCh38] Chr17:8283123 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.313G>A (p.Val105Ile) | single nucleotide variant | Diamond-Blackfan anemia [RCV002979539] | Chr17:8377689 [GRCh38] Chr17:8281007 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu) | single nucleotide variant | Diamond-Blackfan anemia [RCV003018062] | Chr17:8377566 [GRCh38] Chr17:8280884 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.310-16dup | duplication | Diamond-Blackfan anemia [RCV003078188] | Chr17:8377707..8377708 [GRCh38] Chr17:8281025..8281026 [GRCh37] Chr17:17p13.1 |
benign |
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg) | single nucleotide variant | Diamond-Blackfan anemia [RCV003042843] | Chr17:8382228 [GRCh38] Chr17:8285546 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp) | single nucleotide variant | Diamond-Blackfan anemia [RCV002625096] | Chr17:8382253 [GRCh38] Chr17:8285571 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile) | single nucleotide variant | Diamond-Blackfan anemia [RCV003005897] | Chr17:8382204 [GRCh38] Chr17:8285522 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.105C>G (p.Ser35=) | single nucleotide variant | Diamond-Blackfan anemia [RCV002932700]|RPL26-related disorder [RCV003898602] | Chr17:8382206 [GRCh38] Chr17:8285524 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala) | single nucleotide variant | Diamond-Blackfan anemia [RCV002624387] | Chr17:8382282 [GRCh38] Chr17:8285600 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.286C>T (p.His96Tyr) | single nucleotide variant | Diamond-Blackfan anemia [RCV002629452] | Chr17:8379819 [GRCh38] Chr17:8283137 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.180A>G (p.Gly60=) | single nucleotide variant | Diamond-Blackfan anemia [RCV002962963] | Chr17:8379925 [GRCh38] Chr17:8283243 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly) | single nucleotide variant | Diamond-Blackfan anemia [RCV002937278] | Chr17:8382178 [GRCh38] Chr17:8285496 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.382G>A (p.Val128Ile) | single nucleotide variant | Diamond-Blackfan anemia [RCV003091259] | Chr17:8377620 [GRCh38] Chr17:8280938 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe) | single nucleotide variant | Diamond-Blackfan anemia [RCV002680741] | Chr17:8377650 [GRCh38] Chr17:8280968 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.168+15T>G | single nucleotide variant | Diamond-Blackfan anemia [RCV003052756] | Chr17:8382128 [GRCh38] Chr17:8285446 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro) | single nucleotide variant | Diamond-Blackfan anemia [RCV002606906] | Chr17:8377625 [GRCh38] Chr17:8280943 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.309+13G>T | single nucleotide variant | Diamond-Blackfan anemia [RCV002635714] | Chr17:8379783 [GRCh38] Chr17:8283101 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.357C>G (p.Leu119=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003068925] | Chr17:8377645 [GRCh38] Chr17:8280963 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.168+6T>G | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV003224726] | Chr17:8382137 [GRCh38] Chr17:8285455 [GRCh37] Chr17:17p13.1 |
uncertain significance |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 | copy number gain | Chromosome 17p13.3 duplication syndrome [RCV003327726] | Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
Single allele | duplication | not provided [RCV003448671] | Chr17:7709286..8297901 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu) | single nucleotide variant | Diamond-Blackfan anemia [RCV003508724] | Chr17:8377614 [GRCh38] Chr17:8280932 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro) | single nucleotide variant | Diamond-Blackfan anemia [RCV003848952] | Chr17:8377670 [GRCh38] Chr17:8280988 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.15C>T (p.Pro5=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003508550] | Chr17:8382296 [GRCh38] Chr17:8285614 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.426G>A (p.Lys142=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003507828] | Chr17:8377576 [GRCh38] Chr17:8280894 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.408G>A (p.Lys136=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003508205] | Chr17:8377594 [GRCh38] Chr17:8280912 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.15C>G (p.Pro5=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003506896] | Chr17:8382296 [GRCh38] Chr17:8285614 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.168+11C>G | single nucleotide variant | Diamond-Blackfan anemia [RCV003508588] | Chr17:8382132 [GRCh38] Chr17:8285450 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro) | single nucleotide variant | Diamond-Blackfan anemia [RCV003508401] | Chr17:8379854 [GRCh38] Chr17:8283172 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu) | single nucleotide variant | Diamond-Blackfan anemia [RCV003616047] | Chr17:8382267 [GRCh38] Chr17:8285585 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.309+13_309+14delinsCT | indel | Diamond-Blackfan anemia [RCV003616642] | Chr17:8379782..8379783 [GRCh38] Chr17:8283100..8283101 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.169-19C>T | single nucleotide variant | Diamond-Blackfan anemia [RCV003615669] | Chr17:8379955 [GRCh38] Chr17:8283273 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.309+7G>T | single nucleotide variant | Diamond-Blackfan anemia [RCV003617213] | Chr17:8379789 [GRCh38] Chr17:8283107 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.168+4T>G | single nucleotide variant | Diamond-Blackfan anemia [RCV003616375] | Chr17:8382139 [GRCh38] Chr17:8285457 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.243C>T (p.Tyr81=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003617091] | Chr17:8379862 [GRCh38] Chr17:8283180 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile) | single nucleotide variant | Diamond-Blackfan anemia [RCV003838510] | Chr17:8377586 [GRCh38] Chr17:8280904 [GRCh37] Chr17:17p13.1 |
uncertain significance |
NM_000987.5(RPL26):c.45C>T (p.Arg15=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003872182] | Chr17:8382266 [GRCh38] Chr17:8285584 [GRCh37] Chr17:17p13.1 |
likely benign |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 | copy number gain | not specified [RCV003987215] | Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
NM_000987.5(RPL26):c.234T>C (p.Tyr78=) | single nucleotide variant | Diamond-Blackfan anemia [RCV003823598] | Chr17:8379871 [GRCh38] Chr17:8283189 [GRCh37] Chr17:17p13.1 |
likely benign |
NM_000987.5(RPL26):c.-5-2A>G | single nucleotide variant | Diamond-Blackfan anemia 11 [RCV004527283] | Chr17:8382317 [GRCh38] Chr17:8285635 [GRCh37] Chr17:17p13.1 |
likely pathogenic |
NM_000987.5(RPL26):c.87del (p.Met30fs) | deletion | Diamond-Blackfan anemia 11 [RCV004527284] | Chr17:8382224 [GRCh38] Chr17:8285542 [GRCh37] Chr17:17p13.1 |
pathogenic |
NM_000987.5(RPL26):c.-6+3_-6+25del | deletion | Diamond-Blackfan anemia 11 [RCV004527282] | Chr17:8383132..8383154 [GRCh38] Chr17:8286450..8286472 [GRCh37] Chr17:17p13.1 |
likely pathogenic |
NC_000017.10:g.(?_422368)_(8285628_?)dup | duplication | not provided [RCV004581443] | Chr17:422368..8285628 [GRCh37] Chr17:17p13.3-13.1 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D17S1277 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2432 | 2788 | 2245 | 4942 | 1723 | 2345 | 4 | 622 | 1948 | 464 | 2268 | 7281 | 6454 | 52 | 3708 | 847 | 1731 | 1612 | 171 |
RefSeq Transcripts | NG_031989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001315530 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001315531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054316869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB061829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC135178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AX888013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC066316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI091167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI596427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI603704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM928617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU954679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D28413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L07287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000578069 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000578115 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000578812 ⟹ ENSP00000463910 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000582485 ⟹ ENSP00000464143 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000582556 ⟹ ENSP00000463470 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000583011 ⟹ ENSP00000462322 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000583515 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000584164 ⟹ ENSP00000463784 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000584343 ⟹ ENSP00000464239 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000584441 ⟹ ENSP00000462249 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000584906 ⟹ ENSP00000462619 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000585176 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000648839 ⟹ ENSP00000498177 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_000987 ⟹ NP_000978 | ||||||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001315530 ⟹ NP_001302459 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001315531 ⟹ NP_001302460 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_054316869 ⟹ XP_054172844 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_000978 | (Get FASTA) | NCBI Sequence Viewer |
NP_001302459 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001302460 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054172844 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA60279 | (Get FASTA) | NCBI Sequence Viewer |
AAH71664 | (Get FASTA) | NCBI Sequence Viewer | |
BAA05779 | (Get FASTA) | NCBI Sequence Viewer | |
BAB79467 | (Get FASTA) | NCBI Sequence Viewer | |
BAG34747 | (Get FASTA) | NCBI Sequence Viewer | |
CAE93938 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33109 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90053 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90054 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90057 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000462249.1 | ||
ENSP00000462322.1 | |||
ENSP00000462619.1 | |||
ENSP00000463470 | |||
ENSP00000463470.1 | |||
ENSP00000463784 | |||
ENSP00000463784.1 | |||
ENSP00000463910.1 | |||
ENSP00000464143.1 | |||
ENSP00000464239.1 | |||
ENSP00000498177 | |||
ENSP00000498177.1 | |||
GenBank Protein | P61254 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000978 ⟸ NM_000987 |
- UniProtKB: | Q02877 (UniProtKB/Swiss-Prot), D3DTR8 (UniProtKB/Swiss-Prot), B2R4F0 (UniProtKB/Swiss-Prot), Q6IPY2 (UniProtKB/Swiss-Prot), P61254 (UniProtKB/Swiss-Prot), Q6IBH6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001302460 ⟸ NM_001315531 |
- UniProtKB: | Q02877 (UniProtKB/Swiss-Prot), D3DTR8 (UniProtKB/Swiss-Prot), B2R4F0 (UniProtKB/Swiss-Prot), Q6IPY2 (UniProtKB/Swiss-Prot), P61254 (UniProtKB/Swiss-Prot), Q6IBH6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001302459 ⟸ NM_001315530 |
- UniProtKB: | Q02877 (UniProtKB/Swiss-Prot), D3DTR8 (UniProtKB/Swiss-Prot), B2R4F0 (UniProtKB/Swiss-Prot), Q6IPY2 (UniProtKB/Swiss-Prot), P61254 (UniProtKB/Swiss-Prot), Q6IBH6 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000498177 ⟸ ENST00000648839 |
Ensembl Acc Id: | ENSP00000463470 ⟸ ENST00000582556 |
Ensembl Acc Id: | ENSP00000464143 ⟸ ENST00000582485 |
Ensembl Acc Id: | ENSP00000462322 ⟸ ENST00000583011 |
Ensembl Acc Id: | ENSP00000462249 ⟸ ENST00000584441 |
Ensembl Acc Id: | ENSP00000464239 ⟸ ENST00000584343 |
Ensembl Acc Id: | ENSP00000463784 ⟸ ENST00000584164 |
Ensembl Acc Id: | ENSP00000462619 ⟸ ENST00000584906 |
Ensembl Acc Id: | ENSP00000463910 ⟸ ENST00000578812 |
RefSeq Acc Id: | XP_054172844 ⟸ XM_054316869 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q02877 (UniProtKB/Swiss-Prot), P61254 (UniProtKB/Swiss-Prot), D3DTR8 (UniProtKB/Swiss-Prot), B2R4F0 (UniProtKB/Swiss-Prot), Q6IPY2 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P61254-F1-model_v2 | AlphaFold | P61254 | 1-145 | view protein structure |
RGD ID: | 6814611 | ||||||||
Promoter ID: | HG_XEF:3258 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | NM_001005104, NM_001015512, NM_001043768, NM_001105788, NM_001135949, NM_001135950, NM_001135951, NM_001140622, NM_001178039, NM_213113 | ||||||||
Position: |
|
RGD ID: | 6794032 | ||||||||
Promoter ID: | HG_KWN:24963 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000334048, OTTHUMT00000226997 | ||||||||
Position: |
|
RGD ID: | 6850728 | ||||||||
Promoter ID: | EP73158 | ||||||||
Type: | single initiation site | ||||||||
Name: | HS_RPL26 | ||||||||
Description: | Ribosomal protein L26. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
|
RGD ID: | 7233939 | ||||||||
Promoter ID: | EPDNEW_H22715 | ||||||||
Type: | initiation region | ||||||||
Name: | RPL26_2 | ||||||||
Description: | ribosomal protein L26 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22717 EPDNEW_H22716 EPDNEW_H22718 EPDNEW_H22723 EPDNEW_H22719 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233943 | ||||||||
Promoter ID: | EPDNEW_H22716 | ||||||||
Type: | initiation region | ||||||||
Name: | RPL26_3 | ||||||||
Description: | ribosomal protein L26 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22715 EPDNEW_H22717 EPDNEW_H22718 EPDNEW_H22723 EPDNEW_H22719 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233941 | ||||||||
Promoter ID: | EPDNEW_H22717 | ||||||||
Type: | initiation region | ||||||||
Name: | RPL26_5 | ||||||||
Description: | ribosomal protein L26 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22715 EPDNEW_H22716 EPDNEW_H22718 EPDNEW_H22723 EPDNEW_H22719 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233945 | ||||||||
Promoter ID: | EPDNEW_H22718 | ||||||||
Type: | initiation region | ||||||||
Name: | RPL26_6 | ||||||||
Description: | ribosomal protein L26 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22715 EPDNEW_H22717 EPDNEW_H22716 EPDNEW_H22723 EPDNEW_H22719 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233955 | ||||||||
Promoter ID: | EPDNEW_H22719 | ||||||||
Type: | initiation region | ||||||||
Name: | RPL26_1 | ||||||||
Description: | ribosomal protein L26 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22715 EPDNEW_H22717 EPDNEW_H22716 EPDNEW_H22718 EPDNEW_H22723 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:10327 | AgrOrtholog |
COSMIC | RPL26 | COSMIC |
Ensembl Genes | ENSG00000161970 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000578812.5 | UniProtKB/TrEMBL |
ENST00000582485.5 | UniProtKB/TrEMBL | |
ENST00000582556 | ENTREZGENE | |
ENST00000582556.5 | UniProtKB/Swiss-Prot | |
ENST00000583011.6 | UniProtKB/Swiss-Prot | |
ENST00000584164 | ENTREZGENE | |
ENST00000584164.6 | UniProtKB/Swiss-Prot | |
ENST00000584343.6 | UniProtKB/TrEMBL | |
ENST00000584441.5 | UniProtKB/TrEMBL | |
ENST00000584906.6 | UniProtKB/TrEMBL | |
ENST00000648839 | ENTREZGENE | |
ENST00000648839.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.30.30.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000161970 | GTEx |
HGNC ID | HGNC:10327 | ENTREZGENE |
Human Proteome Map | RPL26 | Human Proteome Map |
InterPro | KOW | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KOW_RPL26/RPL24 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rib_L2_dom2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosomal_L24/26_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosomal_L26/L24P_euk/arc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Translation_prot_SH3-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:6154 | UniProtKB/Swiss-Prot |
NCBI Gene | 6154 | ENTREZGENE |
OMIM | 603704 | OMIM |
PANTHER | 60S RIBOSOMAL PROTEIN L26-LIKE 1 | UniProtKB/TrEMBL |
KOW DOMAIN-CONTAINING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTHR11143 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | KOW | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ribosomal_L26 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA34705 | PharmGKB |
PROSITE | RIBOSOMAL_L24 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | KOW | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF50104 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2R4F0 | ENTREZGENE |
D3DTR8 | ENTREZGENE | |
J3KS10_HUMAN | UniProtKB/TrEMBL | |
J3KSS0_HUMAN | UniProtKB/TrEMBL | |
J3QQV1_HUMAN | UniProtKB/TrEMBL | |
J3QRC4_HUMAN | UniProtKB/TrEMBL | |
J3QRI7_HUMAN | UniProtKB/TrEMBL | |
P61254 | ENTREZGENE | |
Q02877 | ENTREZGENE | |
Q6IBH6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6IPY2 | ENTREZGENE | |
RL26_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B2R4F0 | UniProtKB/Swiss-Prot |
D3DTR8 | UniProtKB/Swiss-Prot | |
Q02877 | UniProtKB/Swiss-Prot | |
Q6IPY2 | UniProtKB/Swiss-Prot |