FAM131B (family with sequence similarity 131 member B) - Rat Genome Database

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Gene: FAM131B (family with sequence similarity 131 member B) Homo sapiens
Analyze
Symbol: FAM131B
Name: family with sequence similarity 131 member B
RGD ID: 1605421
HGNC Page HGNC:22202
Description: Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: family with sequence similarity 131, member B; hypothetical protein LOC9715; KIAA0773
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387143,353,400 - 143,382,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7143,353,400 - 143,362,770 (-)EnsemblGRCh38hg38GRCh38
GRCh377143,050,493 - 143,079,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,760,615 - 142,769,967 (-)NCBINCBI36Build 36hg18NCBI36
Celera7137,887,354 - 137,896,064 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7137,387,873 - 137,396,553 (-)NCBIHuRef
CHM1_17142,987,414 - 142,996,761 (-)NCBICHM1_1
T2T-CHM13v2.07144,708,830 - 144,737,731 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,452,619 - 142,461,973 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA,TAS)
nucleoplasm  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Myotonia  (IAGP)
References

References - curated
# 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
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9872452   PMID:12477932   PMID:12853948   PMID:15489334   PMID:16344560   PMID:20379614   PMID:21044950   PMID:22020285   PMID:24453475   PMID:28514442   PMID:32393512   PMID:33961781  
PMID:35331737  


Genomics

Comparative Map Data
FAM131B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387143,353,400 - 143,382,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7143,353,400 - 143,362,770 (-)EnsemblGRCh38hg38GRCh38
GRCh377143,050,493 - 143,079,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,760,615 - 142,769,967 (-)NCBINCBI36Build 36hg18NCBI36
Celera7137,887,354 - 137,896,064 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7137,387,873 - 137,396,553 (-)NCBIHuRef
CHM1_17142,987,414 - 142,996,761 (-)NCBICHM1_1
T2T-CHM13v2.07144,708,830 - 144,737,731 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,452,619 - 142,461,973 (-)NCBI
Fam131b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39642,292,239 - 42,301,574 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl642,292,246 - 42,301,577 (-)EnsemblGRCm39 Ensembl
GRCm38642,315,305 - 42,324,640 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl642,315,312 - 42,324,643 (-)EnsemblGRCm38mm10GRCm38
MGSCv37642,265,311 - 42,274,639 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36642,247,391 - 42,254,187 (-)NCBIMGSCv36mm8
Celera642,259,719 - 42,269,136 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map620.6NCBI
Fam131b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8472,167,667 - 72,176,924 (-)NCBIGRCr8
mRatBN7.2471,201,037 - 71,210,292 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl471,201,038 - 71,210,228 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx476,120,807 - 76,129,994 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0472,034,064 - 72,043,251 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0470,453,523 - 70,462,710 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0471,703,872 - 71,713,268 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl471,703,873 - 71,713,063 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04136,508,269 - 136,517,492 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4470,082,502 - 70,091,693 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera466,131,530 - 66,140,721 (-)NCBICelera
Cytogenetic Map4q24NCBI
Fam131b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955494311,848 - 318,591 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955494311,849 - 318,591 (+)NCBIChiLan1.0ChiLan1.0
FAM131B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26180,206,196 - 180,235,027 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1732,216,453 - 32,245,280 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07135,348,077 - 135,377,017 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17147,838,049 - 147,866,163 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7147,838,049 - 147,866,163 (-)Ensemblpanpan1.1panPan2
FAM131B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1166,335,862 - 6,343,235 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl166,335,785 - 6,341,338 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha167,322,715 - 7,330,234 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0166,187,468 - 6,195,014 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl166,187,460 - 6,197,136 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1166,135,171 - 6,144,833 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0165,986,868 - 5,994,371 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0166,062,119 - 6,069,661 (+)NCBIUU_Cfam_GSD_1.0
Fam131b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511812,104,231 - 12,112,721 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936527788,936 - 797,604 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936527790,708 - 797,549 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM131B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,893,316 - 6,903,012 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,893,323 - 6,903,022 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,134,263 - 7,143,925 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103227130
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121112,237,361 - 112,246,735 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21112,240,512 - 112,246,637 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660728,982,829 - 8,992,191 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam131b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480011,408,092 - 11,414,026 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480011,408,059 - 11,417,021 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM131B
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_001031690.2(FAM131B):c.937G>A (p.Glu313Lys) single nucleotide variant Malignant melanoma [RCV000067717] Chr7:143356696 [GRCh38]
Chr7:143053789 [GRCh37]
Chr7:142763911 [NCBI36]
Chr7:7q34
not provided
NM_001031690.2(FAM131B):c.247C>T (p.Leu83=) single nucleotide variant Malignant melanoma [RCV000067718] Chr7:143359347 [GRCh38]
Chr7:143056440 [GRCh37]
Chr7:142766562 [NCBI36]
Chr7:7q34
not provided
NM_001031690.2(FAM131B):c.246C>T (p.Ala82=) single nucleotide variant Malignant melanoma [RCV000067719] Chr7:143359348 [GRCh38]
Chr7:143056441 [GRCh37]
Chr7:142766563 [NCBI36]
Chr7:7q34
not provided
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_001031690.3(FAM131B):c.318G>A (p.Gly106=) single nucleotide variant not provided [RCV000979248] Chr7:143358975 [GRCh38]
Chr7:143056068 [GRCh37]
Chr7:7q34
benign
NM_003461.5(ZYX):c.188T>G (p.Ile63Ser) single nucleotide variant not provided [RCV000966200] Chr7:143381759 [GRCh38]
Chr7:143078852 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3
likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001031690.3(FAM131B):c.164A>G (p.Asp55Gly) single nucleotide variant Inborn genetic diseases [RCV003295197] Chr7:143359742 [GRCh38]
Chr7:143056835 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV002464193]|Congenital myotonia, autosomal recessive form [RCV000794580]|Congenital myotonia, autosomal recessive form [RCV001196630]|Myotonia [RCV000415403]|not provided [RCV001548069] Chr7:143351633 [GRCh38]
Chr7:143048726 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7q34-35(chr7:142691458-143193361) copy number gain not specified [RCV002053738] Chr7:142691458..143193361 [GRCh37]
Chr7:7q34-35
uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_001031690.3(FAM131B):c.379C>T (p.Pro127Ser) single nucleotide variant Inborn genetic diseases [RCV002661499] Chr7:143358914 [GRCh38]
Chr7:143056007 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.780G>T (p.Leu260Phe) single nucleotide variant Inborn genetic diseases [RCV002797820] Chr7:143356853 [GRCh38]
Chr7:143053946 [GRCh37]
Chr7:7q34
uncertain significance
NM_003461.5(ZYX):c.152G>A (p.Gly51Glu) single nucleotide variant Inborn genetic diseases [RCV002797863] Chr7:143381723 [GRCh38]
Chr7:143078816 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.818C>G (p.Ser273Cys) single nucleotide variant Inborn genetic diseases [RCV002783759] Chr7:143356815 [GRCh38]
Chr7:143053908 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.866C>T (p.Pro289Leu) single nucleotide variant Inborn genetic diseases [RCV002659953] Chr7:143356767 [GRCh38]
Chr7:143053860 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.856G>A (p.Asp286Asn) single nucleotide variant Inborn genetic diseases [RCV002783478] Chr7:143356777 [GRCh38]
Chr7:143053870 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.857A>T (p.Asp286Val) single nucleotide variant Inborn genetic diseases [RCV002783479] Chr7:143356776 [GRCh38]
Chr7:143053869 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.125G>A (p.Arg42Gln) single nucleotide variant Inborn genetic diseases [RCV002827070] Chr7:143360053 [GRCh38]
Chr7:143057146 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.728C>T (p.Pro243Leu) single nucleotide variant Inborn genetic diseases [RCV002956960] Chr7:143356905 [GRCh38]
Chr7:143053998 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.404G>A (p.Arg135His) single nucleotide variant Inborn genetic diseases [RCV002940214] Chr7:143358889 [GRCh38]
Chr7:143055982 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.149C>A (p.Thr50Asn) single nucleotide variant Inborn genetic diseases [RCV002920054] Chr7:143359757 [GRCh38]
Chr7:143056850 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.328G>T (p.Val110Leu) single nucleotide variant Inborn genetic diseases [RCV002934297] Chr7:143358965 [GRCh38]
Chr7:143056058 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.73G>A (p.Asp25Asn) single nucleotide variant Inborn genetic diseases [RCV002940496] Chr7:143360105 [GRCh38]
Chr7:143057198 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.427G>A (p.Asp143Asn) single nucleotide variant Inborn genetic diseases [RCV002677470] Chr7:143358866 [GRCh38]
Chr7:143055959 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.409G>C (p.Asp137His) single nucleotide variant Inborn genetic diseases [RCV002678535] Chr7:143358884 [GRCh38]
Chr7:143055977 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.577A>C (p.Ser193Arg) single nucleotide variant Inborn genetic diseases [RCV003211011] Chr7:143357313 [GRCh38]
Chr7:143054406 [GRCh37]
Chr7:7q34
uncertain significance
NM_001031690.3(FAM131B):c.1069G>C (p.Glu357Gln) single nucleotide variant Inborn genetic diseases [RCV003191602] Chr7:143356564 [GRCh38]
Chr7:143053657 [GRCh37]
Chr7:7q34
uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1
pathogenic
NM_003461.5(ZYX):c.20C>T (p.Ser7Phe) single nucleotide variant Inborn genetic diseases [RCV003356375] Chr7:143381591 [GRCh38]
Chr7:143078684 [GRCh37]
Chr7:7q34
uncertain significance
NM_003461.5(ZYX):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV003423808] Chr7:143381763 [GRCh38]
Chr7:143078856 [GRCh37]
Chr7:7q34
likely benign
NM_001031690.3(FAM131B):c.181A>T (p.Met61Leu) single nucleotide variant Inborn genetic diseases [RCV003352003] Chr7:143359413 [GRCh38]
Chr7:143056506 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:142833114-143218955)x3 copy number gain not provided [RCV003484702] Chr7:142833114..143218955 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:13329
Count of miRNA genes:1121
Interacting mature miRNAs:1423
Transcripts:ENST00000409222, ENST00000409346, ENST00000409408, ENST00000409578, ENST00000410085, ENST00000443739, ENST00000519161, ENST00000519279, ENST00000521347
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
RH46942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,051,099 - 143,051,281UniSTSGRCh37
Build 367142,761,221 - 142,761,403RGDNCBI36
Celera7137,887,960 - 137,888,142RGD
Cytogenetic Map7q34UniSTS
HuRef7137,388,479 - 137,388,661UniSTS
CRA_TCAGchr7v27142,453,225 - 142,453,407UniSTS
GeneMap99-GB4 RH Map7654.89UniSTS
D1S3694  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map7q36.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 adipose tissue appendage entire extraembryonic component
High
Medium 98 6 5 2 6 2 187 5 2316 7 58 27 1
Low 1857 1477 722 50 659 18 2488 1301 1367 180 1046 1044 36 1025 1771
Below cutoff 464 1497 942 519 804 392 1652 884 42 210 333 507 135 179 1016 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001031690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA226407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA334424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000409222   ⟹   ENSP00000387147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,353,822 - 143,362,055 (-)Ensembl
RefSeq Acc Id: ENST00000409346   ⟹   ENSP00000386984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,353,401 - 143,362,725 (-)Ensembl
RefSeq Acc Id: ENST00000409408   ⟹   ENSP00000387017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,353,402 - 143,361,802 (-)Ensembl
RefSeq Acc Id: ENST00000409578   ⟹   ENSP00000386568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,353,401 - 143,362,693 (-)Ensembl
RefSeq Acc Id: ENST00000410085   ⟹   ENSP00000386396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,353,401 - 143,359,757 (-)Ensembl
RefSeq Acc Id: ENST00000443739   ⟹   ENSP00000410603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,353,400 - 143,362,713 (-)Ensembl
RefSeq Acc Id: ENST00000519161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,358,887 - 143,362,770 (-)Ensembl
RefSeq Acc Id: ENST00000519279   ⟹   ENSP00000430601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,356,971 - 143,362,632 (-)Ensembl
RefSeq Acc Id: ENST00000521347   ⟹   ENSP00000430805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,357,281 - 143,362,080 (-)Ensembl
RefSeq Acc Id: NM_001031690   ⟹   NP_001026860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,713 (-)NCBI
GRCh377143,050,493 - 143,079,397 (-)NCBI
Build 367142,760,615 - 142,769,967 (-)NCBI Archive
Celera7137,887,354 - 137,896,064 (-)RGD
HuRef7137,387,873 - 137,396,553 (-)RGD
CHM1_17142,987,414 - 142,996,761 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,718,143 (-)NCBI
CRA_TCAGchr7v27142,452,619 - 142,461,973 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001278297   ⟹   NP_001265226
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,713 (-)NCBI
HuRef7137,387,873 - 137,396,553 (-)NCBI
CHM1_17142,987,414 - 142,996,761 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,718,143 (-)NCBI
CRA_TCAGchr7v27142,452,619 - 142,461,973 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371248   ⟹   NP_001358177
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,713 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,718,143 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371249   ⟹   NP_001358178
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,080 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,717,510 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371250   ⟹   NP_001358179
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,382,304 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,737,731 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371251   ⟹   NP_001358180
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,713 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,718,143 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371252   ⟹   NP_001358181
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,713 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,718,143 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371253   ⟹   NP_001358182
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,080 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,717,510 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014690   ⟹   NP_055505
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,362,080 (-)NCBI
GRCh377143,050,493 - 143,079,397 (-)NCBI
Build 367142,760,617 - 142,769,017 (-)NCBI Archive
Celera7137,887,354 - 137,896,064 (-)RGD
HuRef7137,387,873 - 137,396,553 (-)RGD
CHM1_17142,987,414 - 142,996,094 (-)NCBI
T2T-CHM13v2.07144,708,830 - 144,717,510 (-)NCBI
CRA_TCAGchr7v27142,452,619 - 142,461,973 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047421075   ⟹   XP_047277031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,363,049 (-)NCBI
RefSeq Acc Id: XM_047421076   ⟹   XP_047277032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,353,400 - 143,359,724 (-)NCBI
RefSeq Acc Id: XM_054359406   ⟹   XP_054215381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07144,708,830 - 144,718,479 (-)NCBI
RefSeq Acc Id: XM_054359407   ⟹   XP_054215382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07144,708,830 - 144,715,154 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001026860 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265226 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358177 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358178 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358179 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358180 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358182 (Get FASTA)   NCBI Sequence Viewer  
  NP_055505 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277031 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215381 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215382 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH45611 (Get FASTA)   NCBI Sequence Viewer  
  AAH50543 (Get FASTA)   NCBI Sequence Viewer  
  AAS07501 (Get FASTA)   NCBI Sequence Viewer  
  BAA34493 (Get FASTA)   NCBI Sequence Viewer  
  BAF84159 (Get FASTA)   NCBI Sequence Viewer  
  CAD89938 (Get FASTA)   NCBI Sequence Viewer  
  EAL23787 (Get FASTA)   NCBI Sequence Viewer  
  EAW51853 (Get FASTA)   NCBI Sequence Viewer  
  EAW51854 (Get FASTA)   NCBI Sequence Viewer  
  EAW51855 (Get FASTA)   NCBI Sequence Viewer  
  EAW51856 (Get FASTA)   NCBI Sequence Viewer  
  EAW51857 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000386396.1
  ENSP00000386568
  ENSP00000386568.1
  ENSP00000386984
  ENSP00000386984.1
  ENSP00000387017.1
  ENSP00000387147
  ENSP00000387147.3
  ENSP00000410603
  ENSP00000410603.2
  ENSP00000430601.1
  ENSP00000430805.1
GenBank Protein Q86XD5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055505   ⟸   NM_014690
- Peptide Label: isoform b
- UniProtKB: Q7L0D6 (UniProtKB/Swiss-Prot),   J3KQX2 (UniProtKB/Swiss-Prot),   D3DXE3 (UniProtKB/Swiss-Prot),   B8ZZN2 (UniProtKB/Swiss-Prot),   A8K605 (UniProtKB/Swiss-Prot),   A6NDW3 (UniProtKB/Swiss-Prot),   A4D2H6 (UniProtKB/Swiss-Prot),   Q86T97 (UniProtKB/Swiss-Prot),   Q86XD5 (UniProtKB/Swiss-Prot),   O94871 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001026860   ⟸   NM_001031690
- Peptide Label: isoform a
- UniProtKB: O94871 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265226   ⟸   NM_001278297
- Peptide Label: isoform c
- UniProtKB: Q86XD5 (UniProtKB/Swiss-Prot),   O94871 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358179   ⟸   NM_001371250
- Peptide Label: isoform b
- UniProtKB: Q86XD5 (UniProtKB/Swiss-Prot),   Q7L0D6 (UniProtKB/Swiss-Prot),   J3KQX2 (UniProtKB/Swiss-Prot),   D3DXE3 (UniProtKB/Swiss-Prot),   B8ZZN2 (UniProtKB/Swiss-Prot),   A8K605 (UniProtKB/Swiss-Prot),   A6NDW3 (UniProtKB/Swiss-Prot),   A4D2H6 (UniProtKB/Swiss-Prot),   Q86T97 (UniProtKB/Swiss-Prot),   O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358177   ⟸   NM_001371248
- Peptide Label: isoform d
- UniProtKB: O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358180   ⟸   NM_001371251
- Peptide Label: isoform f
- UniProtKB: O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358181   ⟸   NM_001371252
- Peptide Label: isoform f
- UniProtKB: O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358178   ⟸   NM_001371249
- Peptide Label: isoform e
- UniProtKB: O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358182   ⟸   NM_001371253
- Peptide Label: isoform f
- UniProtKB: O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000386396   ⟸   ENST00000410085
RefSeq Acc Id: ENSP00000430601   ⟸   ENST00000519279
RefSeq Acc Id: ENSP00000430805   ⟸   ENST00000521347
RefSeq Acc Id: ENSP00000410603   ⟸   ENST00000443739
RefSeq Acc Id: ENSP00000386568   ⟸   ENST00000409578
RefSeq Acc Id: ENSP00000386984   ⟸   ENST00000409346
RefSeq Acc Id: ENSP00000387017   ⟸   ENST00000409408
RefSeq Acc Id: ENSP00000387147   ⟸   ENST00000409222
RefSeq Acc Id: XP_047277031   ⟸   XM_047421075
- Peptide Label: isoform X1
- UniProtKB: Q86XD5 (UniProtKB/Swiss-Prot),   Q7L0D6 (UniProtKB/Swiss-Prot),   J3KQX2 (UniProtKB/Swiss-Prot),   D3DXE3 (UniProtKB/Swiss-Prot),   B8ZZN2 (UniProtKB/Swiss-Prot),   A8K605 (UniProtKB/Swiss-Prot),   A6NDW3 (UniProtKB/Swiss-Prot),   A4D2H6 (UniProtKB/Swiss-Prot),   Q86T97 (UniProtKB/Swiss-Prot),   O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277032   ⟸   XM_047421076
- Peptide Label: isoform X2
- UniProtKB: O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215381   ⟸   XM_054359406
- Peptide Label: isoform X1
- UniProtKB: Q86XD5 (UniProtKB/Swiss-Prot),   Q7L0D6 (UniProtKB/Swiss-Prot),   J3KQX2 (UniProtKB/Swiss-Prot),   D3DXE3 (UniProtKB/Swiss-Prot),   B8ZZN2 (UniProtKB/Swiss-Prot),   A8K605 (UniProtKB/Swiss-Prot),   A6NDW3 (UniProtKB/Swiss-Prot),   A4D2H6 (UniProtKB/Swiss-Prot),   Q86T97 (UniProtKB/Swiss-Prot),   O94871 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215382   ⟸   XM_054359407
- Peptide Label: isoform X2
- UniProtKB: O94871 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86XD5-F1-model_v2 AlphaFold Q86XD5 1-332 view protein structure

Promoters
RGD ID:7212165
Promoter ID:EPDNEW_H11829
Type:initiation region
Name:FAM131B_3
Description:family with sequence similarity 131 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11830  EPDNEW_H11834  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,361,809 - 143,361,869EPDNEW
RGD ID:7212167
Promoter ID:EPDNEW_H11830
Type:initiation region
Name:FAM131B_1
Description:family with sequence similarity 131 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11829  EPDNEW_H11834  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,362,713 - 143,362,773EPDNEW
RGD ID:7212175
Promoter ID:EPDNEW_H11834
Type:initiation region
Name:FAM131B_2
Description:family with sequence similarity 131 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11829  EPDNEW_H11830  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,382,257 - 143,382,317EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22202 AgrOrtholog
COSMIC FAM131B COSMIC
Ensembl Genes ENSG00000159784 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000409222 ENTREZGENE
  ENST00000409222.7 UniProtKB/Swiss-Prot
  ENST00000409346 ENTREZGENE
  ENST00000409346.5 UniProtKB/Swiss-Prot
  ENST00000409408.5 UniProtKB/Swiss-Prot
  ENST00000409578 ENTREZGENE
  ENST00000409578.5 UniProtKB/Swiss-Prot
  ENST00000410085.5 UniProtKB/TrEMBL
  ENST00000443739 ENTREZGENE
  ENST00000443739.7 UniProtKB/Swiss-Prot
  ENST00000519279.5 UniProtKB/TrEMBL
  ENST00000521347.1 UniProtKB/TrEMBL
GTEx ENSG00000159784 GTEx
HGNC ID HGNC:22202 ENTREZGENE
Human Proteome Map FAM131B Human Proteome Map
InterPro FAM131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9715 UniProtKB/Swiss-Prot
NCBI Gene 9715 ENTREZGENE
OMIM 619282 OMIM
PANTHER PROTEIN FAM131B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386065 PharmGKB
UniProt A4D2H6 ENTREZGENE
  A6NDW3 ENTREZGENE
  A8K605 ENTREZGENE
  B8ZZN2 ENTREZGENE
  D3DXE3 ENTREZGENE
  E5RI17_HUMAN UniProtKB/TrEMBL
  E5RJ60_HUMAN UniProtKB/TrEMBL
  F131B_HUMAN UniProtKB/Swiss-Prot
  H0Y3V6_HUMAN UniProtKB/TrEMBL
  J3KQX2 ENTREZGENE
  O94871 ENTREZGENE, UniProtKB/TrEMBL
  Q7L0D6 ENTREZGENE
  Q86T97 ENTREZGENE
  Q86XD5 ENTREZGENE
UniProt Secondary A4D2H6 UniProtKB/Swiss-Prot
  A6NDW3 UniProtKB/Swiss-Prot
  A8K605 UniProtKB/Swiss-Prot
  B8ZZN2 UniProtKB/Swiss-Prot
  D3DXE3 UniProtKB/Swiss-Prot
  J3KQX2 UniProtKB/Swiss-Prot
  Q7L0D6 UniProtKB/Swiss-Prot
  Q86T97 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM131B  family with sequence similarity 131 member B    family with sequence similarity 131, member B  Symbol and/or name change 5135510 APPROVED