Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11076863 | PMID:11230166 | PMID:12477932 | PMID:14702039 | PMID:15489334 | PMID:15489336 | PMID:15684398 | PMID:16189514 | PMID:16239144 | PMID:16381901 | PMID:16710414 | PMID:18029348 |
PMID:19913121 | PMID:20133760 | PMID:20628086 | PMID:21873635 | PMID:21900206 | PMID:21988832 | PMID:22252320 | PMID:22516433 | PMID:23128233 | PMID:23667531 | PMID:23904267 | PMID:24981860 |
PMID:25798074 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:27880917 | PMID:28330616 | PMID:28396433 | PMID:28514442 | PMID:28986522 | PMID:29117863 | PMID:29467282 | PMID:29471365 |
PMID:29509190 | PMID:29955894 | PMID:30804502 | PMID:30948266 | PMID:31527615 | PMID:31617661 | PMID:31753913 | PMID:31953354 | PMID:32296183 | PMID:32513696 | PMID:32647223 | PMID:32697989 |
PMID:33548203 | PMID:33961781 | PMID:34004147 | PMID:34373451 | PMID:34551776 | PMID:35013556 | PMID:35256949 | PMID:35271311 | PMID:35563538 | PMID:35748872 | PMID:36114006 | PMID:36180473 |
PMID:36244648 | PMID:36822327 | PMID:37980560 |
INTS11 (Homo sapiens - human) |
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Ints11 (Mus musculus - house mouse) |
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Ints11 (Rattus norvegicus - Norway rat) |
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Ints11 (Chinchilla lanigera - long-tailed chinchilla) |
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INTS11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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INTS11 (Canis lupus familiaris - dog) |
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Ints11 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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INTS11 (Sus scrofa - pig) |
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INTS11 (Chlorocebus sabaeus - green monkey) |
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Ints11 (Heterocephalus glaber - naked mole-rat) |
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Variants in INTS11
26 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) | copy number loss | Primary dilated cardiomyopathy [RCV000626523] | Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 | copy number gain | Distal trisomy 1p36 [RCV000519759] | Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|See cases [RCV000050339] | Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2 |
benign |
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 | copy number loss | See cases [RCV000050857] | Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 | copy number loss | See cases [RCV000050882] | Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 | copy number loss | See cases [RCV000050642] | Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 | copy number loss | See cases [RCV000050647] | Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 | copy number loss | See cases [RCV000050752] | Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 | copy number loss | See cases [RCV000051143] | Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 | copy number gain | See cases [RCV000051779] | Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 | copy number gain | See cases [RCV000051780] | Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1 | copy number loss | See cases [RCV000052043] | Chr1:844347..2131805 [GRCh38] Chr1:779727..2063244 [GRCh37] Chr1:769590..2053104 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1 | copy number loss | See cases [RCV000052044] | Chr1:845437..2523513 [GRCh38] Chr1:780817..2454952 [GRCh37] Chr1:770680..2444812 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 | copy number loss | See cases [RCV000052045] | Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 | copy number loss | See cases [RCV000052063] | Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1 | copy number loss | See cases [RCV000052064] | Chr1:872305..2047715 [GRCh38] Chr1:807685..1979154 [GRCh37] Chr1:797548..1969014 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 | copy number loss | See cases [RCV000052065] | Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 | copy number loss | See cases [RCV000052066] | Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 | copy number gain | See cases [RCV000052067] | Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 | copy number loss | See cases [RCV000051993] | Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 | copy number loss | See cases [RCV000052068] | Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] | Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 | copy number loss | See cases [RCV000051994] | Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 | copy number loss | See cases [RCV000051995] | Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 | copy number loss | See cases [RCV000052070] | Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 | copy number loss | See cases [RCV000051996] | Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 | copy number loss | See cases [RCV000052014] | Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 | copy number loss | See cases [RCV000052015] | Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|See cases [RCV000052016] | Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 | copy number loss | See cases [RCV000052017] | Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 | copy number loss | See cases [RCV000052018] | Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] | Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] | Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] | Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 | copy number loss | See cases [RCV000052040] | Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|See cases [RCV000052041] | Chr1:844347..2014739 [GRCh38] Chr1:779727..1946178 [GRCh37] Chr1:769590..1936038 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] | Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
NM_017871.5(CPSF3L):c.958-2A>T | single nucleotide variant | Malignant melanoma [RCV000064062] | Chr1:1313594 [GRCh38] Chr1:1248974 [GRCh37] Chr1:1238837 [NCBI36] Chr1:1p36.33 |
not provided |
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 | copy number gain | See cases [RCV000133658] | Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1 | copy number loss | See cases [RCV000134145] | Chr1:1013081..1722599 [GRCh38] Chr1:948461..1654038 [GRCh37] Chr1:938324..1643898 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 | copy number loss | See cases [RCV000134211] | Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 | copy number loss | See cases [RCV000134747] | Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 | copy number gain | See cases [RCV000134750] | Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 | copy number loss | See cases [RCV000133943] | Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 | copy number loss | See cases [RCV000134137] | Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 | copy number loss | See cases [RCV000134055] | Chr1:844353..2420916 [GRCh38] Chr1:779733..2352355 [GRCh37] Chr1:769596..2342215 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4 | copy number gain | See cases [RCV000134939] | Chr1:932163..1792271 [GRCh38] Chr1:867543..1723710 [GRCh37] Chr1:857406..1713570 [NCBI36] Chr1:1p36.33 |
likely benign |
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 | copy number loss | See cases [RCV000136554] | Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 | copy number loss | See cases [RCV000136715] | Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 | copy number loss | See cases [RCV000136695] | Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 | copy number loss | See cases [RCV000137380] | Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 | copy number loss | See cases [RCV000138225] | Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 | copy number gain | See cases [RCV000138165] | Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32 |
likely pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1 | copy number loss | See cases [RCV000137890] | Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4 | copy number gain | See cases [RCV000137894] | Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32 |
uncertain significance |
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 | copy number loss | See cases [RCV000137978] | Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 | copy number loss | See cases [RCV000138704] | Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 | copy number loss | See cases [RCV000138883] | Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 | copy number loss | See cases [RCV000139404] | Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 | copy number loss | See cases [RCV000138896] | Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 | copy number loss | See cases [RCV000140164] | Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1 | copy number loss | See cases [RCV000139876] | Chr1:821713..2554047 [GRCh38] Chr1:757093..2485486 [GRCh37] Chr1:746956..2479281 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 | copy number loss | See cases [RCV000139780] | Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 | copy number loss | See cases [RCV000141208] | Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 | copy number loss | See cases [RCV000141318] | Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 | copy number loss | See cases [RCV000141227] | Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 | copy number loss | See cases [RCV000141356] | Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1 | copy number loss | See cases [RCV000140892] | Chr1:914086..2465738 [GRCh38] Chr1:849466..2397177 [GRCh37] Chr1:839329..2387037 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 | copy number loss | See cases [RCV000140894] | Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 | copy number loss | See cases [RCV000141970] | Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 | copy number loss | See cases [RCV000141577] | Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 | copy number loss | See cases [RCV000141668] | Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1 | copy number loss | See cases [RCV000142178] | Chr1:914086..1538895 [GRCh38] Chr1:849466..1474275 [GRCh37] Chr1:839329..1464138 [NCBI36] Chr1:1p36.33 |
likely pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1 | copy number loss | See cases [RCV000142754] | Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 | copy number loss | See cases [RCV000142651] | Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 | copy number loss | See cases [RCV000142615] | Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 | copy number loss | See cases [RCV000142709] | Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 | copy number loss | See cases [RCV000148161] | Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1 | copy number loss | See cases [RCV000240189] | Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
Single allele | complex | Breast ductal adenocarcinoma [RCV000207058] | Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
chr1:909238-16736132 complex variant | complex | Breast ductal adenocarcinoma [RCV000207094] | Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13 |
uncertain significance |
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 | copy number loss | See cases [RCV000239416] | Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 | copy number loss | See cases [RCV000240403] | Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1 | copy number loss | See cases [RCV000240333] | Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1 | copy number loss | See cases [RCV002285055] | Chr1:849466..2518608 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 | copy number gain | See cases [RCV000449132] | Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 | copy number loss | See cases [RCV000449148] | Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 | copy number loss | See cases [RCV000449322] | Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 | copy number loss | See cases [RCV000446331] | Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 | copy number gain | See cases [RCV000447000] | Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 | copy number loss | See cases [RCV000446544] | Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 | copy number loss | See cases [RCV000447515] | Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1241799-1268865)x3 | copy number gain | See cases [RCV000447990] | Chr1:1241799..1268865 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 | copy number loss | See cases [RCV000448903] | Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 | copy number loss | See cases [RCV000448061] | Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 | copy number loss | See cases [RCV000512052] | Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 | copy number loss | See cases [RCV000510494] | Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 | copy number loss | See cases [RCV000510640] | Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3 | copy number gain | See cases [RCV000510511] | Chr1:849466..1663402 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1 | copy number loss | See cases [RCV000511408] | Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1 | copy number loss | See cases [RCV000512029] | Chr1:849466..2330338 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 | copy number loss | See cases [RCV000511381] | Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1 | copy number loss | See cases [RCV000511834] | Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1 | copy number loss | See cases [RCV000510858] | Chr1:849466..2554275 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_017871.6(INTS11):c.1540C>T (p.Arg514Cys) | single nucleotide variant | Inborn genetic diseases [RCV003296567] | Chr1:1312293 [GRCh38] Chr1:1247673 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.636C>G (p.Asp212Glu) | single nucleotide variant | not provided [RCV003239120] | Chr1:1314890 [GRCh38] Chr1:1250270 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NC_000001.11:g.(?_1020153)_(1313808_?)del | deletion | Congenital myasthenic syndrome 8 [RCV000651427] | Chr1:1020153..1313808 [GRCh38] Chr1:955533..1249188 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 | copy number loss | See cases [RCV000512568] | Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 | copy number loss | See cases [RCV000512243] | Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1 | copy number loss | not provided [RCV000684531] | Chr1:849466..1314437 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1 | copy number loss | not provided [RCV000684532] | Chr1:849466..2240632 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 | copy number loss | not provided [RCV000684533] | Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1 | copy number loss | not provided [RCV000684535] | Chr1:1129318..2040693 [GRCh37] Chr1:1p36.33 |
likely pathogenic |
NC_000001.10:g.(?_1249188)_(1961741_?)del | deletion | Idiopathic generalized epilepsy [RCV000707855] | Chr1:1249188..1961741 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1222529-1247820)x3 | copy number gain | not provided [RCV000736336] | Chr1:1222529..1247820 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1222596-1248041)x3 | copy number gain | not provided [RCV000736337] | Chr1:1222596..1248041 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1223122-1247820)x3 | copy number gain | not provided [RCV000736340] | Chr1:1223122..1247820 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1226757-1246972)x4 | copy number gain | not provided [RCV000736344] | Chr1:1226757..1246972 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3 | copy number gain | not provided [RCV000736302] | Chr1:82154..1289863 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 | copy number loss | not provided [RCV000736294] | Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1221530-1289863)x3 | copy number gain | not provided [RCV000736334] | Chr1:1221530..1289863 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1221530-1267908)x1 | copy number loss | not provided [RCV000736332] | Chr1:1221530..1267908 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1221530-1271808)x3 | copy number gain | not provided [RCV000736333] | Chr1:1221530..1271808 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1223385-1289863)x3 | copy number gain | not provided [RCV000736341] | Chr1:1223385..1289863 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3 | copy number gain | not provided [RCV000736301] | Chr1:82154..1289835 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1 | copy number loss | not provided [RCV000736303] | Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 | copy number loss | not provided [RCV000736304] | Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1 | copy number loss | not provided [RCV000748800] | Chr1:727037..1366830 [GRCh37] Chr1:1p36.33 |
likely benign |
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 | copy number loss | not provided [RCV000748814] | Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1121794-1346905)x3 | copy number gain | not provided [RCV000748819] | Chr1:1121794..1346905 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1130727-1289863)x3 | copy number gain | not provided [RCV000748822] | Chr1:1130727..1289863 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:568708-1283779) | copy number loss | not provided [RCV000767825] | Chr1:568708..1283779 [GRCh37] Chr1:1p36.33 |
likely pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832) | copy number loss | Chromosome 1p36 deletion syndrome [RCV000767776] | Chr1:568708..2567832 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 | copy number loss | See cases [RCV000790584] | Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) | copy number loss | Chromosome 1p36 deletion syndrome [RCV000767775] | Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
NM_017871.6(INTS11):c.1740C>T (p.Asp580=) | single nucleotide variant | not provided [RCV000893499] | Chr1:1311922 [GRCh38] Chr1:1247302 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) | copy number loss | Chromosome 1p36 deletion syndrome [RCV000767774] | Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 | copy number loss | See cases [RCV000790592] | Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1233200-1453416)x1 | copy number loss | not provided [RCV000846661] | Chr1:1233200..1453416 [GRCh37] Chr1:1p36.33 |
uncertain significance |
Single allele | deletion | Neurodevelopmental disorder [RCV000787413] | Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
NC_000001.10:g.(?_955543)_(2957600_?)del | deletion | Shprintzen-Goldberg syndrome [RCV000816642] | Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32 |
uncertain significance |
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 | copy number loss | not provided [RCV001005060] | Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3 | copy number gain | not provided [RCV000846682] | Chr1:727731..2107858 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 | copy number loss | not provided [RCV001005057] | Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 | copy number loss | not provided [RCV001005058] | Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
NM_017871.6(INTS11):c.1240C>T (p.His414Tyr) | single nucleotide variant | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities [RCV003237388] | Chr1:1312841 [GRCh38] Chr1:1248221 [GRCh37] Chr1:1p36.33 |
pathogenic |
NM_017871.6(INTS11):c.163G>A (p.Gly55Ser) | single nucleotide variant | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities [RCV003237391] | Chr1:1320493 [GRCh38] Chr1:1255873 [GRCh37] Chr1:1p36.33 |
pathogenic |
NM_017871.6(INTS11):c.1607+18C>A | single nucleotide variant | not provided [RCV001676391] | Chr1:1312208 [GRCh38] Chr1:1247588 [GRCh37] Chr1:1p36.33 |
benign |
NM_017871.6(INTS11):c.767+9C>T | single nucleotide variant | not provided [RCV000895039] | Chr1:1314292 [GRCh38] Chr1:1249672 [GRCh37] Chr1:1p36.33 |
likely benign |
NM_017871.6(INTS11):c.588C>T (p.Arg196=) | single nucleotide variant | not provided [RCV000952255] | Chr1:1314938 [GRCh38] Chr1:1250318 [GRCh37] Chr1:1p36.33 |
benign |
NM_017871.6(INTS11):c.1543G>A (p.Val515Met) | single nucleotide variant | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities [RCV003237390] | Chr1:1312290 [GRCh38] Chr1:1247670 [GRCh37] Chr1:1p36.33 |
pathogenic |
NM_017871.6(INTS11):c.50G>T (p.Arg17Leu) | single nucleotide variant | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities [RCV003237392] | Chr1:1321072 [GRCh38] Chr1:1256452 [GRCh37] Chr1:1p36.33 |
pathogenic |
NM_017871.6(INTS11):c.412C>T (p.Leu138Phe) | single nucleotide variant | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities [RCV003237389] | Chr1:1319313 [GRCh38] Chr1:1254693 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1 | copy number loss | not provided [RCV001005056] | Chr1:849466..1649932 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 | copy number loss | not provided [RCV001005059] | Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
NM_017871.6(INTS11):c.882C>T (p.Phe294=) | single nucleotide variant | not provided [RCV001715580] | Chr1:1313807 [GRCh38] Chr1:1249187 [GRCh37] Chr1:1p36.33 |
benign |
NC_000001.11:g.(?_1013554)_(1313808_?)del | deletion | Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824] | Chr1:948934..1249188 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NC_000001.10:g.(?_955543)_(3350385_?)del | deletion | Left ventricular noncompaction 8 [RCV001033604] | Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32 |
uncertain significance |
NC_000001.10:g.(?_955543)_(2238214_?)del | deletion | Congenital myasthenic syndrome 8 [RCV001033252] | Chr1:955543..2238214 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) | copy number loss | Harel-Yoon syndrome [RCV001254115] | Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23 |
likely pathogenic |
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1 | copy number loss | not provided [RCV001260111] | Chr1:849466..2033256 [GRCh37] Chr1:1p36.33 |
pathogenic |
NC_000001.10:g.(?_1249188)_(1961741_?)del | deletion | Idiopathic generalized epilepsy [RCV001295086] | Chr1:1249188..1961741 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1 | copy number loss | not provided [RCV001260112] | Chr1:849466..1976788 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1 | copy number loss | not provided [RCV001260110] | Chr1:849466..1806659 [GRCh37] Chr1:1p36.33 |
likely pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 | copy number loss | not provided [RCV001260116] | Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
NC_000001.10:g.(?_948954)_(1284445_?)dup | duplication | Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001305754]|not provided [RCV001308818] | Chr1:948954..1284445 [GRCh37] Chr1:1p36.33 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1 | copy number loss | not provided [RCV001270634] | Chr1:753462..1717335 [GRCh37] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1 | copy number loss | not provided [RCV001795535] | Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
NC_000001.10:g.(?_1235211)_(1326995_?)del | deletion | not provided [RCV002023109] | Chr1:1235211..1326995 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1 | copy number loss | not provided [RCV001829223] | Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 | copy number loss | not provided [RCV001832902] | Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13 |
pathogenic |
NC_000001.10:g.(?_989123)_(3160711_?)del | deletion | Left ventricular noncompaction 8 [RCV002004579] | Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32 |
uncertain significance |
NC_000001.10:g.(?_861322)_(3768971_?)del | deletion | Combined immunodeficiency due to OX40 deficiency [RCV001919158]|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]|Joubert syndrome 25 [RCV001923368]|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]|not provided [RCV001943250] | Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000001.10:g.(?_955553)_(3350375_?)del | deletion | Left ventricular noncompaction 8 [RCV001955735] | Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32 |
uncertain significance |
NC_000001.10:g.(?_861322)_(2161194_?)del | deletion | Idiopathic generalized epilepsy [RCV002050272] | Chr1:861322..2161194 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NC_000001.10:g.(?_1249188)_(1284445_?)dup | duplication | not provided [RCV003113478] | Chr1:1249188..1284445 [GRCh37] Chr1:1p36.33 |
uncertain significance |
Single allele | deletion | Chromosome 1p36 deletion syndrome [RCV002247723] | Chr1:817861..1836133 [GRCh38] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) | copy number loss | Chromosome 1p36 deletion syndrome [RCV002280715] | Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006) | copy number loss | Chromosome 1p36 deletion syndrome [RCV002280716] | Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) | copy number loss | Chromosome 1p36 deletion syndrome, proximal [RCV002280717] | Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 | copy number loss | Chromosome 1p36 deletion syndrome [RCV002279763] | Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
NM_017871.6(INTS11):c.1586G>A (p.Arg529His) | single nucleotide variant | Inborn genetic diseases [RCV003260033] | Chr1:1312247 [GRCh38] Chr1:1247627 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 | copy number loss | not provided [RCV002473951] | Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1 | copy number loss | not provided [RCV002474760] | Chr1:1129319..1264880 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3 | copy number gain | not provided [RCV002474934] | Chr1:1130311..2397177 [GRCh37] Chr1:1p36.33-36.32 |
uncertain significance |
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1 | copy number loss | Chromosome 1p36 deletion syndrome [RCV003226604] | Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
NM_017871.6(INTS11):c.545C>T (p.Thr182Ile) | single nucleotide variant | Inborn genetic diseases [RCV003197207] | Chr1:1315422 [GRCh38] Chr1:1250802 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.961G>C (p.Val321Leu) | single nucleotide variant | Inborn genetic diseases [RCV003218225] | Chr1:1313589 [GRCh38] Chr1:1248969 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.437A>G (p.Asp146Gly) | single nucleotide variant | Inborn genetic diseases [RCV003207435] | Chr1:1315611 [GRCh38] Chr1:1250991 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.1111G>A (p.Glu371Lys) | single nucleotide variant | Inborn genetic diseases [RCV003210579] | Chr1:1313055 [GRCh38] Chr1:1248435 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.983T>A (p.Leu328Gln) | single nucleotide variant | not provided [RCV003329076] | Chr1:1313567 [GRCh38] Chr1:1248947 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.721G>A (p.Ala241Thr) | single nucleotide variant | not provided [RCV003329071] | Chr1:1314347 [GRCh38] Chr1:1249727 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.1573G>C (p.Glu525Gln) | single nucleotide variant | Inborn genetic diseases [RCV003368843] | Chr1:1312260 [GRCh38] Chr1:1247640 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.881T>G (p.Phe294Cys) | single nucleotide variant | Inborn genetic diseases [RCV003383931] | Chr1:1313808 [GRCh38] Chr1:1249188 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 | copy number loss | not provided [RCV003482961] | Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1 | copy number loss | not provided [RCV003482983] | Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 | copy number loss | not specified [RCV003986962] | Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3 | copy number gain | not specified [RCV003986984] | Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1 | copy number loss | not provided [RCV003482994] | Chr1:1182855..2431925 [GRCh37] Chr1:1p36.33-36.32 |
likely pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] | Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
NM_153339.1(PUSL1):c.517C>A (p.Leu173Ile) | single nucleotide variant | Malignant melanoma [RCV000059856] | Chr1:1309724 [GRCh38] Chr1:1245104 [GRCh37] Chr1:1234967 [NCBI36] Chr1:1p36.33 |
not provided |
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 | copy number loss | See cases [RCV000140709] | Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1 | copy number loss | See cases [RCV000143224] | Chr1:914086..1613769 [GRCh38] Chr1:849466..1549149 [GRCh37] Chr1:839329..1539012 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1226242-1268865)x3 | copy number gain | See cases [RCV000447162] | Chr1:1226242..1268865 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 | copy number loss | not provided [RCV000684534] | Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1223122-1247469)x3 | copy number gain | not provided [RCV000736339] | Chr1:1223122..1247469 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1138913-1289863)x3 | copy number gain | not provided [RCV000748824] | Chr1:1138913..1289863 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1219775-1288823)x1 | copy number loss | not provided [RCV000748827] | Chr1:1219775..1288823 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1241746-1275410)x1 | copy number loss | not provided [RCV000748830] | Chr1:1241746..1275410 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1246013-1267539)x3 | copy number gain | not provided [RCV000748831] | Chr1:1246013..1267539 [GRCh37] Chr1:1p36.33 |
benign |
GRCh37/hg19 1p36.33(chr1:1247454-1289835)x3 | copy number gain | not provided [RCV000748832] | Chr1:1247454..1289835 [GRCh37] Chr1:1p36.33 |
benign |
NM_017871.6(INTS11):c.470A>G (p.His157Arg) | single nucleotide variant | not provided [RCV003239121] | Chr1:1315578 [GRCh38] Chr1:1250958 [GRCh37] Chr1:1p36.33 |
uncertain significance |
NM_017871.6(INTS11):c.150C>T (p.Tyr50=) | single nucleotide variant | not provided [RCV000926248] | Chr1:1320506 [GRCh38] Chr1:1255886 [GRCh37] Chr1:1p36.33 |
likely benign |
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1 | copy number loss | not provided [RCV003312163] | Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3 | copy number gain | See cases [RCV001007411] | Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1 | copy number loss | not provided [RCV002472529] | Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
NM_017871.6(INTS11):c.1328C>T (p.Thr443Met) | single nucleotide variant | Inborn genetic diseases [RCV003340249] | Chr1:1312667 [GRCh38] Chr1:1248047 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3 | copy number gain | not provided [RCV003484001] | Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32 |
pathogenic |
GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3 | copy number gain | not provided [RCV003484002] | Chr1:1138880..1647481 [GRCh37] Chr1:1p36.33 |
uncertain significance |
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3 | copy number gain | not provided [RCV003483999] | Chr1:1089596..2607016 [GRCh37] Chr1:1p36.33-36.32 |
uncertain significance |
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 | copy number gain | Trisomy 12p [RCV003447845] | Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1 |
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. |
RH91825 |
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RH76790 |
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D1S2520 |
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D17S610 |
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D15S1477 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GDB:434012 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L17688 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L17709 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L17971 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH36905 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D8S2279 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S1425 |
|
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 | 2438 | 2820 | 1673 | 572 | 1844 | 413 | 4355 | 2132 | 3549 | 394 | 1459 | 1611 | 175 | 1 | 1204 | 2788 | 6 | 2 |
Low | 1 | 171 | 53 | 52 | 107 | 52 | 2 | 65 | 185 | 25 | 1 | 2 | ||||||
Below cutoff |
RefSeq Transcripts | NM_001256456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001256460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001256462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001256463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_017871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011541647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011541648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011541650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA687684 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK000549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK021939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK022675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023356 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK058018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL139287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC042444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC047576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BK005673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BK005728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR533557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC295791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC299237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC299993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF274554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000323275 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000411962 ⟹ ENSP00000400548 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000419704 ⟹ ENSP00000404886 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000421495 ⟹ ENSP00000464436 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000429572 ⟹ ENSP00000481275 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000430786 ⟹ ENSP00000404012 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000434694 ⟹ ENSP00000411233 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000435064 ⟹ ENSP00000413493 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000450926 ⟹ ENSP00000392848 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000458452 ⟹ ENSP00000433930 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000461514 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000462432 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000467408 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000470030 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000470679 ⟹ ENSP00000434782 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000478641 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000485710 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000488042 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000490853 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000493534 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000496353 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000497304 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000498173 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000498476 ⟹ ENSP00000436824 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000525164 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000525285 ⟹ ENSP00000436396 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000525603 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000525769 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000526113 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000526332 ⟹ ENSP00000434790 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000526797 ⟹ ENSP00000435418 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000526904 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000527098 ⟹ ENSP00000431952 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000527383 ⟹ ENSP00000431425 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000527719 ⟹ ENSP00000436743 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000528879 ⟹ ENSP00000432777 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000530031 ⟹ ENSP00000432009 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000530233 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000531019 ⟹ ENSP00000433733 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000531020 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000531292 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000531377 ⟹ ENSP00000433264 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000532772 ⟹ ENSP00000431214 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000532952 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000533916 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000534345 ⟹ ENSP00000435772 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000540437 ⟹ ENSP00000445001 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000545578 ⟹ ENSP00000444672 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000618806 ⟹ ENSP00000480957 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000620829 ⟹ ENSP00000481821 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001256456 ⟹ NP_001243385 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001256460 ⟹ NP_001243389 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001256462 ⟹ NP_001243391 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001256463 ⟹ NP_001243392 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_017871 ⟹ NP_060341 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011541647 ⟹ XP_011539949 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011541648 ⟹ XP_011539950 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011541650 ⟹ XP_011539952 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054337266 ⟹ XP_054193241 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054337267 ⟹ XP_054193242 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054337268 ⟹ XP_054193243 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001243385 | (Get FASTA) | NCBI Sequence Viewer |
NP_001243389 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001243391 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001243392 | (Get FASTA) | NCBI Sequence Viewer | |
NP_060341 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011539949 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011539950 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011539952 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193241 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193242 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193243 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH00675 | (Get FASTA) | NCBI Sequence Viewer |
AAH07978 | (Get FASTA) | NCBI Sequence Viewer | |
AAH08041 | (Get FASTA) | NCBI Sequence Viewer | |
AAH13904 | (Get FASTA) | NCBI Sequence Viewer | |
AAH20199 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91246 | (Get FASTA) | NCBI Sequence Viewer | |
BAB13943 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14541 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84076 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51775 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59799 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66747 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38588 | (Get FASTA) | NCBI Sequence Viewer | |
DAA05669 | (Get FASTA) | NCBI Sequence Viewer | |
DAA05728 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56232 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56233 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56234 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56235 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56236 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56237 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56238 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56239 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56240 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56241 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56242 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56243 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56244 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000392848.2 | ||
ENSP00000400548.1 | |||
ENSP00000404012.1 | |||
ENSP00000404886 | |||
ENSP00000404886.1 | |||
ENSP00000411233.2 | |||
ENSP00000413493 | |||
ENSP00000413493.2 | |||
ENSP00000431214.1 | |||
ENSP00000431952.1 | |||
ENSP00000432009.1 | |||
ENSP00000432777.1 | |||
ENSP00000433264.1 | |||
ENSP00000433733.1 | |||
ENSP00000433930.1 | |||
ENSP00000434782.1 | |||
ENSP00000434790.1 | |||
ENSP00000435418.1 | |||
ENSP00000435772.1 | |||
ENSP00000436396.1 | |||
ENSP00000436743.1 | |||
ENSP00000436824.1 | |||
ENSP00000444672 | |||
ENSP00000444672.1 | |||
ENSP00000445001 | |||
ENSP00000445001.1 | |||
ENSP00000464436.1 | |||
ENSP00000481275.1 | |||
ENSP00000481821 | |||
ENSP00000481821.1 | |||
GenBank Protein | Q5TA45 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_060341 ⟸ NM_017871 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9HAA6 (UniProtKB/Swiss-Prot), Q9H8R5 (UniProtKB/Swiss-Prot), Q9H0F9 (UniProtKB/Swiss-Prot), Q9BW36 (UniProtKB/Swiss-Prot), Q96HY1 (UniProtKB/Swiss-Prot), Q7L3D7 (UniProtKB/Swiss-Prot), Q5TA54 (UniProtKB/Swiss-Prot), Q5TA53 (UniProtKB/Swiss-Prot), Q5TA52 (UniProtKB/Swiss-Prot), Q5TA48 (UniProtKB/Swiss-Prot), Q5TA46 (UniProtKB/Swiss-Prot), G3V1S5 (UniProtKB/Swiss-Prot), B4DM87 (UniProtKB/Swiss-Prot), B3KPR3 (UniProtKB/Swiss-Prot), A8K5S2 (UniProtKB/Swiss-Prot), Q9NWX9 (UniProtKB/Swiss-Prot), Q5TA45 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001243392 ⟸ NM_001256463 |
- Peptide Label: | isoform 5 |
- UniProtKB: | C9IYS7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001243389 ⟸ NM_001256460 |
- Peptide Label: | isoform 3 |
- UniProtKB: | C9IYS7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001243391 ⟸ NM_001256462 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A087WYI0 (UniProtKB/TrEMBL), C9IYS7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001243385 ⟸ NM_001256456 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q5TA45 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011539952 ⟸ XM_011541650 |
- Peptide Label: | isoform X3 |
- UniProtKB: | C9IYS7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011539949 ⟸ XM_011541647 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011539950 ⟸ XM_011541648 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000481821 ⟸ ENST00000620829 |
RefSeq Acc Id: | ENSP00000400548 ⟸ ENST00000411962 |
RefSeq Acc Id: | ENSP00000392848 ⟸ ENST00000450926 |
RefSeq Acc Id: | ENSP00000432009 ⟸ ENST00000530031 |
RefSeq Acc Id: | ENSP00000433733 ⟸ ENST00000531019 |
RefSeq Acc Id: | ENSP00000444672 ⟸ ENST00000545578 |
RefSeq Acc Id: | ENSP00000433264 ⟸ ENST00000531377 |
RefSeq Acc Id: | ENSP00000431214 ⟸ ENST00000532772 |
RefSeq Acc Id: | ENSP00000481275 ⟸ ENST00000429572 |
RefSeq Acc Id: | ENSP00000435772 ⟸ ENST00000534345 |
RefSeq Acc Id: | ENSP00000404886 ⟸ ENST00000419704 |
RefSeq Acc Id: | ENSP00000433930 ⟸ ENST00000458452 |
RefSeq Acc Id: | ENSP00000436824 ⟸ ENST00000498476 |
RefSeq Acc Id: | ENSP00000404012 ⟸ ENST00000430786 |
RefSeq Acc Id: | ENSP00000434782 ⟸ ENST00000470679 |
RefSeq Acc Id: | ENSP00000480957 ⟸ ENST00000618806 |
RefSeq Acc Id: | ENSP00000436396 ⟸ ENST00000525285 |
RefSeq Acc Id: | ENSP00000434790 ⟸ ENST00000526332 |
RefSeq Acc Id: | ENSP00000435418 ⟸ ENST00000526797 |
RefSeq Acc Id: | ENSP00000431952 ⟸ ENST00000527098 |
RefSeq Acc Id: | ENSP00000411233 ⟸ ENST00000434694 |
RefSeq Acc Id: | ENSP00000431425 ⟸ ENST00000527383 |
RefSeq Acc Id: | ENSP00000436743 ⟸ ENST00000527719 |
RefSeq Acc Id: | ENSP00000464436 ⟸ ENST00000421495 |
RefSeq Acc Id: | ENSP00000432777 ⟸ ENST00000528879 |
RefSeq Acc Id: | ENSP00000413493 ⟸ ENST00000435064 |
RefSeq Acc Id: | ENSP00000445001 ⟸ ENST00000540437 |
RefSeq Acc Id: | XP_054193241 ⟸ XM_054337266 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054193242 ⟸ XM_054337267 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054193243 ⟸ XM_054337268 |
- Peptide Label: | isoform X3 |
- UniProtKB: | C9IYS7 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5TA45-F1-model_v2 | AlphaFold | Q5TA45 | 1-600 | view protein structure |
RGD ID: | 6784956 | ||||||||
Promoter ID: | HG_KWN:156 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000009380 | ||||||||
Position: |
|
RGD ID: | 6784954 | ||||||||
Promoter ID: | HG_KWN:157 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000009365, OTTHUMT00000009367, OTTHUMT00000009377, OTTHUMT00000009378, OTTHUMT00000009379, OTTHUMT00000009381 | ||||||||
Position: |
|
RGD ID: | 6785234 | ||||||||
Promoter ID: | HG_KWN:160 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000294579, OTTHUMT00000008742, OTTHUMT00000008743, OTTHUMT00000008744, OTTHUMT00000009360, OTTHUMT00000009369, OTTHUMT00000009370, OTTHUMT00000009372, OTTHUMT00000009373, OTTHUMT00000009374, OTTHUMT00000009375, OTTHUMT00000009376, OTTHUMT00000009382, OTTHUMT00000099681, OTTHUMT00000099682, UC001AEF.1, UC001AEG.1, UC001AEH.1, UC001AEI.1, UC001AEJ.1, UC001AEK.1, UC001AEL.1, UC001AEN.1, UC009VJZ.1 | ||||||||
Position: |
|
RGD ID: | 6853716 | ||||||||
Promoter ID: | EPDNEW_H23 | ||||||||
Type: | initiation region | ||||||||
Name: | INTS11_2 | ||||||||
Description: | integrator complex subunit 11 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H24 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6853718 | ||||||||
Promoter ID: | EPDNEW_H24 | ||||||||
Type: | initiation region | ||||||||
Name: | INTS11_1 | ||||||||
Description: | integrator complex subunit 11 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H23 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:26052 | AgrOrtholog |
COSMIC | INTS11 | COSMIC |
Ensembl Genes | ENSG00000127054 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000411962.5 | UniProtKB/TrEMBL |
ENST00000419704 | ENTREZGENE | |
ENST00000419704.5 | UniProtKB/Swiss-Prot | |
ENST00000421495.6 | UniProtKB/TrEMBL | |
ENST00000429572.5 | UniProtKB/TrEMBL | |
ENST00000430786.5 | UniProtKB/TrEMBL | |
ENST00000434694.6 | UniProtKB/TrEMBL | |
ENST00000435064 | ENTREZGENE | |
ENST00000435064.6 | UniProtKB/Swiss-Prot | |
ENST00000450926.6 | UniProtKB/Swiss-Prot | |
ENST00000458452.7 | UniProtKB/TrEMBL | |
ENST00000470679.3 | UniProtKB/TrEMBL | |
ENST00000498476.6 | UniProtKB/TrEMBL | |
ENST00000525285.1 | UniProtKB/TrEMBL | |
ENST00000526332.5 | UniProtKB/TrEMBL | |
ENST00000526797.5 | UniProtKB/TrEMBL | |
ENST00000527098.5 | UniProtKB/TrEMBL | |
ENST00000527719.5 | UniProtKB/TrEMBL | |
ENST00000528879.5 | UniProtKB/TrEMBL | |
ENST00000530031.5 | UniProtKB/TrEMBL | |
ENST00000531019.5 | UniProtKB/TrEMBL | |
ENST00000531377.5 | UniProtKB/TrEMBL | |
ENST00000532772.5 | UniProtKB/TrEMBL | |
ENST00000534345.5 | UniProtKB/TrEMBL | |
ENST00000540437 | ENTREZGENE | |
ENST00000540437.5 | UniProtKB/Swiss-Prot | |
ENST00000545578 | ENTREZGENE | |
ENST00000545578.5 | UniProtKB/Swiss-Prot | |
ENST00000620829 | ENTREZGENE | |
ENST00000620829.4 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.10890 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.60.15.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000127054 | GTEx |
HGNC ID | HGNC:26052 | ENTREZGENE |
Human Proteome Map | INTS11 | Human Proteome Map |
InterPro | Beta_Casp | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
INTS11-like_MBL-fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IntS11_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Metallo-B-lactamas | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RibonucZ/Hydroxyglut_hydro | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RMMBL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:54973 | UniProtKB/Swiss-Prot |
NCBI Gene | 54973 | ENTREZGENE |
OMIM | 611354 | OMIM |
PANTHER | CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR FAMILY MEMBER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
INTEGRATOR COMPLEX SUBUNIT 11 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Beta-Casp | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IntS11_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Lactamase_B | UniProtKB/TrEMBL | |
Lactamase_B_6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RMMBL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA142672080 | PharmGKB |
SMART | Beta-Casp | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Lactamase_B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF56281 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A087WXT8_HUMAN | UniProtKB/TrEMBL |
A0A087WYI0 | ENTREZGENE, UniProtKB/TrEMBL | |
A8K5S2 | ENTREZGENE | |
B3KPR3 | ENTREZGENE | |
B4DM87 | ENTREZGENE | |
C9IYS7 | ENTREZGENE, UniProtKB/TrEMBL | |
C9J979_HUMAN | UniProtKB/TrEMBL | |
E9PI75_HUMAN | UniProtKB/TrEMBL | |
E9PIG1_HUMAN | UniProtKB/TrEMBL | |
E9PIL7_HUMAN | UniProtKB/TrEMBL | |
E9PIS0_HUMAN | UniProtKB/TrEMBL | |
E9PIX9_HUMAN | UniProtKB/TrEMBL | |
E9PJG0_HUMAN | UniProtKB/TrEMBL | |
E9PKA4_HUMAN | UniProtKB/TrEMBL | |
E9PMA2_HUMAN | UniProtKB/TrEMBL | |
E9PNH9_HUMAN | UniProtKB/TrEMBL | |
E9PNS4_HUMAN | UniProtKB/TrEMBL | |
E9PQF0_HUMAN | UniProtKB/TrEMBL | |
G3V1S5 | ENTREZGENE | |
H0YDB1_HUMAN | UniProtKB/TrEMBL | |
H0YE15_HUMAN | UniProtKB/TrEMBL | |
H0YEQ9_HUMAN | UniProtKB/TrEMBL | |
H7C247_HUMAN | UniProtKB/TrEMBL | |
INT11_HUMAN | UniProtKB/Swiss-Prot | |
J3QRY6_HUMAN | UniProtKB/TrEMBL | |
Q5TA45 | ENTREZGENE | |
Q5TA46 | ENTREZGENE | |
Q5TA48 | ENTREZGENE | |
Q5TA52 | ENTREZGENE | |
Q5TA53 | ENTREZGENE | |
Q5TA54 | ENTREZGENE | |
Q7L3D7 | ENTREZGENE | |
Q96HY1 | ENTREZGENE | |
Q9BW36 | ENTREZGENE | |
Q9H0F9 | ENTREZGENE | |
Q9H8R5 | ENTREZGENE | |
Q9HAA6 | ENTREZGENE | |
Q9NWX9 | ENTREZGENE | |
UniProt Secondary | A0A024R081 | UniProtKB/TrEMBL |
A0A9K3Y882 | UniProtKB/TrEMBL | |
A8K5S2 | UniProtKB/Swiss-Prot | |
B3KPR3 | UniProtKB/Swiss-Prot | |
B4DM87 | UniProtKB/Swiss-Prot | |
G3V1S5 | UniProtKB/Swiss-Prot | |
Q5TA46 | UniProtKB/Swiss-Prot | |
Q5TA48 | UniProtKB/Swiss-Prot | |
Q5TA52 | UniProtKB/Swiss-Prot | |
Q5TA53 | UniProtKB/Swiss-Prot | |
Q5TA54 | UniProtKB/Swiss-Prot | |
Q7L3D7 | UniProtKB/Swiss-Prot | |
Q96HY1 | UniProtKB/Swiss-Prot | |
Q9BW36 | UniProtKB/Swiss-Prot | |
Q9H0F9 | UniProtKB/Swiss-Prot | |
Q9H8R5 | UniProtKB/Swiss-Prot | |
Q9HAA6 | UniProtKB/Swiss-Prot | |
Q9NWX9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-12-20 | INTS11 | integrator complex subunit 11 | CPSF3L | cleavage and polyadenylation specific factor 3-like | Symbol and/or name change | 5135510 | APPROVED |