SAMD4B (sterile alpha motif domain containing 4B) - Rat Genome Database

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Gene: SAMD4B (sterile alpha motif domain containing 4B) Homo sapiens
Analyze
Symbol: SAMD4B
Name: sterile alpha motif domain containing 4B
RGD ID: 1605980
HGNC Page HGNC:25492
Description: Enables RNA binding activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within cerebellar neuron development. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10211; hSmaug2; MGC99832; protein Smaug homolog 2; SAM domain-containing protein 4B; smaug 2; smaug homolog B; Smaug2; SMGB; sterile alpha motif domain-containing protein 4B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381939,342,421 - 39,390,764 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1939,342,421 - 39,385,710 (+)EnsemblGRCh38hg38GRCh38
GRCh371939,833,061 - 39,876,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361944,524,948 - 44,567,382 (+)NCBINCBI36Build 36hg18NCBI36
Celera1936,634,788 - 36,677,224 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1936,279,807 - 36,322,244 (+)NCBIHuRef
CHM1_11939,833,837 - 39,876,274 (+)NCBICHM1_1
T2T-CHM13v2.01942,146,695 - 42,195,044 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA)
nucleus  (IEA)
P-body  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15161933   PMID:15302935   PMID:15324660   PMID:15489334   PMID:16221671   PMID:16964243   PMID:17353931   PMID:19322201   PMID:19913121   PMID:20510020  
PMID:20628086   PMID:21873635   PMID:22681889   PMID:22939629   PMID:23251661   PMID:23667531   PMID:24104479   PMID:24255178   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26687479  
PMID:26972000   PMID:28514442   PMID:28611215   PMID:29229926   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29802200   PMID:31527615   PMID:32296183   PMID:33961781   PMID:34079125  
PMID:34109425   PMID:35156780   PMID:35271311   PMID:36114006   PMID:36215168   PMID:36543142   PMID:36931259   PMID:36949045   PMID:37267103   PMID:37689310   PMID:37827155   PMID:38777146  


Genomics

Comparative Map Data
SAMD4B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381939,342,421 - 39,390,764 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1939,342,421 - 39,385,710 (+)EnsemblGRCh38hg38GRCh38
GRCh371939,833,061 - 39,876,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361944,524,948 - 44,567,382 (+)NCBINCBI36Build 36hg18NCBI36
Celera1936,634,788 - 36,677,224 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1936,279,807 - 36,322,244 (+)NCBIHuRef
CHM1_11939,833,837 - 39,876,274 (+)NCBICHM1_1
T2T-CHM13v2.01942,146,695 - 42,195,044 (+)NCBIT2T-CHM13v2.0
Samd4b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39728,098,947 - 28,135,616 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl728,098,947 - 28,135,652 (-)EnsemblGRCm39 Ensembl
GRCm38728,399,522 - 28,436,191 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl728,399,522 - 28,598,144 (-)EnsemblGRCm38mm10GRCm38
MGSCv37729,184,541 - 29,221,210 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36728,109,032 - 28,144,951 (-)NCBIMGSCv36mm8
Celera722,961,111 - 22,997,787 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map716.73NCBI
Samd4b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8192,816,955 - 92,855,243 (-)NCBIGRCr8
mRatBN7.2183,689,413 - 83,728,652 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl183,689,413 - 83,713,853 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx189,099,410 - 89,123,871 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0197,557,924 - 97,582,336 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0190,855,280 - 90,879,743 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0185,324,017 - 85,362,266 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl185,324,043 - 85,362,241 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0186,543,900 - 86,577,571 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4183,506,971 - 83,531,789 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1183,585,834 - 83,609,901 (-)NCBI
Celera178,085,681 - 78,110,098 (-)NCBICelera
Cytogenetic Map1q21NCBI
Samd4b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955468172,352 - 199,230 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955468172,331 - 199,230 (-)NCBIChiLan1.0ChiLan1.0
SAMD4B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22045,637,876 - 45,681,133 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11947,508,486 - 47,551,715 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01936,440,769 - 36,483,953 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11944,990,081 - 45,031,673 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1945,002,848 - 45,031,649 (+)Ensemblpanpan1.1panPan2
SAMD4B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11113,828,432 - 113,857,336 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1113,828,447 - 113,857,314 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1113,231,809 - 113,274,282 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01114,429,074 - 114,471,549 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1114,433,532 - 114,471,571 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11113,987,790 - 114,030,223 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01113,620,568 - 113,663,020 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01114,615,665 - 114,658,139 (-)NCBIUU_Cfam_GSD_1.0
Samd4b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934913,779,811 - 13,808,124 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366612,208,827 - 2,234,010 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366612,208,852 - 2,234,660 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SAMD4B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl648,002,712 - 48,046,555 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1648,002,726 - 48,046,563 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214143,698,232 - 143,724,853 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SAMD4B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1633,949,045 - 33,990,410 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl633,963,231 - 33,988,246 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607311,969,284 - 12,010,771 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Samd4b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479412,686,543 - 12,719,695 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479412,677,695 - 12,724,595 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SAMD4B
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
NM_018028.3(SAMD4B):c.1590C>T (p.Leu530=) single nucleotide variant Malignant melanoma [RCV000072135] Chr19:39380025 [GRCh38]
Chr19:39870665 [GRCh37]
Chr19:44562505 [NCBI36]
Chr19:19q13.2
not provided
NM_001384574.2(SAMD4B):c.1569G>C (p.Trp523Cys) single nucleotide variant not provided [RCV001293865] Chr19:39380004 [GRCh38]
Chr19:39870644 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NC_000019.9:g.(?_39205089)_(40913839_?)dup duplication Type 2 diabetes mellitus [RCV003107444]|not provided [RCV003122562] Chr19:39205089..40913839 [GRCh37]
Chr19:19q13.2
uncertain significance|no classifications from unflagged records
NM_019088.4(PAF1):c.372C>T (p.His124=) single nucleotide variant not provided [RCV001706993] Chr19:39389371 [GRCh38]
Chr19:39880011 [GRCh37]
Chr19:19q13.2
benign
NM_019088.4(PAF1):c.858-37G>A single nucleotide variant not provided [RCV001640918] Chr19:39388504 [GRCh38]
Chr19:39879144 [GRCh37]
Chr19:19q13.2
benign
NM_019088.4(PAF1):c.986+22G>C single nucleotide variant not provided [RCV001656350] Chr19:39388317 [GRCh38]
Chr19:39878957 [GRCh37]
Chr19:19q13.2
benign
NM_019088.4(PAF1):c.987-297A>G single nucleotide variant not provided [RCV001649030] Chr19:39387096 [GRCh38]
Chr19:39877736 [GRCh37]
Chr19:19q13.2
benign
NM_019088.4(PAF1):c.568-8T>C single nucleotide variant not provided [RCV001663208] Chr19:39389023 [GRCh38]
Chr19:39879663 [GRCh37]
Chr19:19q13.2
benign
NM_019088.4(PAF1):c.48-87_48-86insCTT insertion not provided [RCV001686479] Chr19:39390375..39390376 [GRCh38]
Chr19:39881015..39881016 [GRCh37]
Chr19:19q13.2
benign
NM_019088.4(PAF1):c.987-166A>G single nucleotide variant not provided [RCV001653996] Chr19:39386965 [GRCh38]
Chr19:39877605 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2
pathogenic
NM_001384574.2(SAMD4B):c.704G>A (p.Arg235His) single nucleotide variant not specified [RCV004212958] Chr19:39375686 [GRCh38]
Chr19:39866326 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1005C>A (p.His335Gln) single nucleotide variant not specified [RCV004192185] Chr19:39376534 [GRCh38]
Chr19:39867174 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.476G>A (p.Arg159His) single nucleotide variant not specified [RCV004161802] Chr19:39369934 [GRCh38]
Chr19:39860574 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.619A>G (p.Ser207Gly) single nucleotide variant not specified [RCV004147416] Chr19:39370077 [GRCh38]
Chr19:39860717 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1781C>T (p.Ser594Leu) single nucleotide variant not specified [RCV004202807] Chr19:39380718 [GRCh38]
Chr19:39871358 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1201G>A (p.Val401Met) single nucleotide variant not specified [RCV004190636] Chr19:39377581 [GRCh38]
Chr19:39868221 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1170A>C (p.Glu390Asp) single nucleotide variant not specified [RCV004240158] Chr19:39386495 [GRCh38]
Chr19:39877135 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1615G>A (p.Ala539Thr) single nucleotide variant not specified [RCV004113005] Chr19:39380050 [GRCh38]
Chr19:39870690 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.478T>G (p.Ser160Ala) single nucleotide variant not specified [RCV004083022] Chr19:39369936 [GRCh38]
Chr19:39860576 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.202G>A (p.Val68Ile) single nucleotide variant not specified [RCV004236566] Chr19:39369660 [GRCh38]
Chr19:39860300 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.340G>A (p.Glu114Lys) single nucleotide variant not specified [RCV004114359] Chr19:39369798 [GRCh38]
Chr19:39860438 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1523C>T (p.Thr508Ile) single nucleotide variant not specified [RCV004211834] Chr19:39378582 [GRCh38]
Chr19:39869222 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1241C>T (p.Ser414Leu) single nucleotide variant not specified [RCV004203211] Chr19:39386346 [GRCh38]
Chr19:39876986 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.752C>T (p.Pro251Leu) single nucleotide variant not specified [RCV004202416] Chr19:39375734 [GRCh38]
Chr19:39866374 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1957C>T (p.Leu653Phe) single nucleotide variant not specified [RCV004165806] Chr19:39381098 [GRCh38]
Chr19:39871738 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1316G>A (p.Ser439Asn) single nucleotide variant not specified [RCV004126381] Chr19:39386271 [GRCh38]
Chr19:39876911 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.542T>C (p.Leu181Pro) single nucleotide variant not specified [RCV004110584] Chr19:39370000 [GRCh38]
Chr19:39860640 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.629C>T (p.Pro210Leu) single nucleotide variant not specified [RCV004233016] Chr19:39370087 [GRCh38]
Chr19:39860727 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.505C>T (p.Arg169Cys) single nucleotide variant not specified [RCV004194779] Chr19:39369963 [GRCh38]
Chr19:39860603 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.485C>G (p.Pro162Arg) single nucleotide variant not specified [RCV004122559] Chr19:39369943 [GRCh38]
Chr19:39860583 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1106A>G (p.Asp369Gly) single nucleotide variant not specified [RCV004122594] Chr19:39377486 [GRCh38]
Chr19:39868126 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1540G>A (p.Asp514Asn) single nucleotide variant not specified [RCV004098482] Chr19:39386047 [GRCh38]
Chr19:39876687 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1231A>C (p.Lys411Gln) single nucleotide variant not specified [RCV004101587] Chr19:39377611 [GRCh38]
Chr19:39868251 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.290A>G (p.Asn97Ser) single nucleotide variant not specified [RCV004266352] Chr19:39389642 [GRCh38]
Chr19:39880282 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1432A>G (p.Ser478Gly) single nucleotide variant not specified [RCV004265131] Chr19:39386155 [GRCh38]
Chr19:39876795 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1423C>G (p.Gln475Glu) single nucleotide variant not specified [RCV004272005] Chr19:39386164 [GRCh38]
Chr19:39876804 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1499C>G (p.Ala500Gly) single nucleotide variant not specified [RCV004259473] Chr19:39386088 [GRCh38]
Chr19:39876728 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.845C>T (p.Ala282Val) single nucleotide variant not specified [RCV004299996] Chr19:39388572 [GRCh38]
Chr19:39879212 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.280A>C (p.Ile94Leu) single nucleotide variant not specified [RCV004346674] Chr19:39389652 [GRCh38]
Chr19:39880292 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1733T>C (p.Met578Thr) single nucleotide variant not specified [RCV004357599] Chr19:39380670 [GRCh38]
Chr19:39871310 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.778G>C (p.Ala260Pro) single nucleotide variant not specified [RCV004357729] Chr19:39375760 [GRCh38]
Chr19:39866400 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.586C>T (p.Arg196Trp) single nucleotide variant not specified [RCV004346900] Chr19:39370044 [GRCh38]
Chr19:39860684 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1465G>A (p.Gly489Ser) single nucleotide variant not specified [RCV004362955] Chr19:39386122 [GRCh38]
Chr19:39876762 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.322T>C (p.Leu108=) single nucleotide variant not provided [RCV003415232] Chr19:39389517 [GRCh38]
Chr19:39880157 [GRCh37]
Chr19:19q13.2
likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2
pathogenic
NM_019088.4(PAF1):c.1445C>T (p.Ser482Leu) single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV003989268] Chr19:39386142 [GRCh38]
Chr19:39876782 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1402G>C (p.Asp468His) single nucleotide variant not specified [RCV004497836] Chr19:39386185 [GRCh38]
Chr19:39876825 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.500A>T (p.His167Leu) single nucleotide variant not specified [RCV004450008] Chr19:39369958 [GRCh38]
Chr19:39860598 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1265G>T (p.Gly422Val) single nucleotide variant not specified [RCV004450002] Chr19:39377645 [GRCh38]
Chr19:39868285 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1741C>T (p.Arg581Trp) single nucleotide variant not specified [RCV004450006] Chr19:39380678 [GRCh38]
Chr19:39871318 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.278G>T (p.Arg93Leu) single nucleotide variant not specified [RCV004497838] Chr19:39389654 [GRCh38]
Chr19:39880294 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.869A>G (p.Lys290Arg) single nucleotide variant not specified [RCV004497839] Chr19:39388456 [GRCh38]
Chr19:39879096 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1346C>G (p.Pro449Arg) single nucleotide variant not specified [RCV004450003] Chr19:39377726 [GRCh38]
Chr19:39868366 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1388C>T (p.Pro463Leu) single nucleotide variant not specified [RCV004450004] Chr19:39377768 [GRCh38]
Chr19:39868408 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1699G>A (p.Gly567Arg) single nucleotide variant not specified [RCV004450005] Chr19:39380636 [GRCh38]
Chr19:39871276 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.524G>C (p.Trp175Ser) single nucleotide variant not specified [RCV004450009] Chr19:39369982 [GRCh38]
Chr19:39860622 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1168G>A (p.Glu390Lys) single nucleotide variant not specified [RCV004497835] Chr19:39386497 [GRCh38]
Chr19:39877137 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.776G>A (p.Arg259Gln) single nucleotide variant not specified [RCV004450013] Chr19:39375758 [GRCh38]
Chr19:39866398 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.836C>G (p.Ser279Cys) single nucleotide variant not specified [RCV004450014] Chr19:39375818 [GRCh38]
Chr19:39866458 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1777C>A (p.Pro593Thr) single nucleotide variant not specified [RCV004450007] Chr19:39380714 [GRCh38]
Chr19:39871354 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.550G>A (p.Gly184Arg) single nucleotide variant not specified [RCV004450010] Chr19:39370008 [GRCh38]
Chr19:39860648 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.617C>G (p.Ser206Cys) single nucleotide variant not specified [RCV004450011] Chr19:39370075 [GRCh38]
Chr19:39860715 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.1419G>C (p.Gln473His) single nucleotide variant not specified [RCV004650703] Chr19:39386168 [GRCh38]
Chr19:39876808 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.953G>A (p.Gly318Asp) single nucleotide variant not specified [RCV004650704] Chr19:39388372 [GRCh38]
Chr19:39879012 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.524G>T (p.Trp175Leu) single nucleotide variant not specified [RCV004661411] Chr19:39369982 [GRCh38]
Chr19:39860622 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1858T>C (p.Phe620Leu) single nucleotide variant not specified [RCV004661412] Chr19:39380999 [GRCh38]
Chr19:39871639 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_019088.4(PAF1):c.911G>C (p.Ser304Thr) single nucleotide variant not specified [RCV004664012] Chr19:39388414 [GRCh38]
Chr19:39879054 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.758C>T (p.Pro253Leu) single nucleotide variant not specified [RCV004661414] Chr19:39375740 [GRCh38]
Chr19:39866380 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.485C>T (p.Pro162Leu) single nucleotide variant not specified [RCV004661413] Chr19:39369943 [GRCh38]
Chr19:39860583 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001384574.2(SAMD4B):c.1700G>A (p.Gly567Glu) single nucleotide variant not specified [RCV004674459] Chr19:39380637 [GRCh38]
Chr19:39871277 [GRCh37]
Chr19:19q13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3649
Count of miRNA genes:1075
Interacting mature miRNAs:1354
Transcripts:ENST00000314471, ENST00000594204, ENST00000595476, ENST00000596271, ENST00000596319, ENST00000596368, ENST00000598605, ENST00000598913, ENST00000599712, ENST00000600018, ENST00000601613, ENST00000602243
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407343174GWAS992150_Hinterferon gamma measurement, response to BCG intravesical immunotherapy QTL GWAS992150 (human)2e-08interferon gamma measurement, response to BCG intravesical immunotherapymononuclear cell interferon gamma expression (CMO:0003222)193937727339377274Human
407380766GWAS1029742_Hinterleukin 16 measurement QTL GWAS1029742 (human)0.000007interleukin 16 measurement193938321839383219Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
407045757GWAS694733_Hphysical activity QTL GWAS694733 (human)0.000006physical activity193935914939359150Human
406994909GWAS643885_Hserum alanine aminotransferase measurement QTL GWAS643885 (human)2e-12serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)193935209239352093Human

Markers in Region
STS-AA024814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,875,287 - 39,875,513UniSTSGRCh37
Build 361944,567,127 - 44,567,353RGDNCBI36
Celera1936,676,969 - 36,677,195RGD
Cytogenetic Map19q13.2UniSTS
HuRef1936,321,989 - 36,322,215UniSTS
GeneMap99-GB4 RH Map19238.57UniSTS
NCBI RH Map19426.3UniSTS
G19397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371939,842,887 - 39,843,016UniSTSGRCh37
Build 361944,534,727 - 44,534,856RGDNCBI36
Celera1936,644,567 - 36,644,696RGD
Cytogenetic Map19q13.2UniSTS
HuRef1936,289,587 - 36,289,716UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF601121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000314471   ⟹   ENSP00000317224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,342,468 - 39,384,926 (+)Ensembl
Ensembl Acc Id: ENST00000594204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,356,708 - 39,360,148 (+)Ensembl
Ensembl Acc Id: ENST00000595476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,378,505 - 39,381,296 (+)Ensembl
Ensembl Acc Id: ENST00000596271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,385,121 - 39,385,698 (+)Ensembl
Ensembl Acc Id: ENST00000596319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,369,553 - 39,375,680 (+)Ensembl
Ensembl Acc Id: ENST00000596368   ⟹   ENSP00000471509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,356,816 - 39,385,710 (+)Ensembl
Ensembl Acc Id: ENST00000598605   ⟹   ENSP00000468891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,380,734 - 39,383,586 (+)Ensembl
Ensembl Acc Id: ENST00000598913   ⟹   ENSP00000470237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,342,442 - 39,384,188 (+)Ensembl
Ensembl Acc Id: ENST00000599712   ⟹   ENSP00000469620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,354,004 - 39,370,115 (+)Ensembl
Ensembl Acc Id: ENST00000600018   ⟹   ENSP00000470821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,370,092 - 39,376,546 (+)Ensembl
Ensembl Acc Id: ENST00000601613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,349,800 - 39,352,489 (+)Ensembl
Ensembl Acc Id: ENST00000602243   ⟹   ENSP00000469404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,342,396 - 39,369,683 (+)Ensembl
Ensembl Acc Id: ENST00000610417   ⟹   ENSP00000484229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,342,421 - 39,385,700 (+)Ensembl
Ensembl Acc Id: ENST00000611159   ⟹   ENSP00000482861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,356,683 - 39,384,895 (+)Ensembl
RefSeq Acc Id: NM_001303614   ⟹   NP_001290543
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
CHM1_11939,833,828 - 39,876,219 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384565   ⟹   NP_001371494
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384566   ⟹   NP_001371495
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384568   ⟹   NP_001371497
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384569   ⟹   NP_001371498
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384570   ⟹   NP_001371499
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384571   ⟹   NP_001371500
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384573   ⟹   NP_001371502
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384574   ⟹   NP_001371503
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,385,700 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,977 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384575   ⟹   NP_001371504
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384576   ⟹   NP_001371505
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384577   ⟹   NP_001371506
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384578   ⟹   NP_001371507
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384580   ⟹   NP_001371509
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384581   ⟹   NP_001371510
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384582   ⟹   NP_001371511
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384583   ⟹   NP_001371512
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384584   ⟹   NP_001371513
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384585   ⟹   NP_001371514
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384586   ⟹   NP_001371515
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384587   ⟹   NP_001371516
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384588   ⟹   NP_001371517
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384589   ⟹   NP_001371518
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384590   ⟹   NP_001371519
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384591   ⟹   NP_001371520
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384592   ⟹   NP_001371521
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384593   ⟹   NP_001371522
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384594   ⟹   NP_001371523
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001384595   ⟹   NP_001371524
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018028   ⟹   NP_060498
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
GRCh371939,833,108 - 39,876,340 (+)NCBI
Build 361944,524,948 - 44,567,382 (+)NCBI Archive
Celera1936,634,788 - 36,677,224 (+)RGD
HuRef1936,279,807 - 36,322,244 (+)RGD
CHM1_11939,833,828 - 39,876,274 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169271
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169272
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169273
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169274
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,384,888 (+)NCBI
T2T-CHM13v2.01942,146,695 - 42,189,165 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527057   ⟹   XP_011525359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,390,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527060   ⟹   XP_011525362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,351,817 - 39,390,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527062   ⟹   XP_011525364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,390,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026919   ⟹   XP_016882408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,390,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439027   ⟹   XP_047294983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,421 - 39,390,764 (+)NCBI
RefSeq Acc Id: XM_047439028   ⟹   XP_047294984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,344,125 - 39,390,764 (+)NCBI
RefSeq Acc Id: XM_047439029   ⟹   XP_047294985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,344,125 - 39,385,700 (+)NCBI
RefSeq Acc Id: XM_047439030   ⟹   XP_047294986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,344,125 - 39,385,700 (+)NCBI
RefSeq Acc Id: XM_047439031   ⟹   XP_047294987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,344,125 - 39,385,700 (+)NCBI
RefSeq Acc Id: XM_047439032   ⟹   XP_047294988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,351,817 - 39,385,700 (+)NCBI
RefSeq Acc Id: XM_047439033   ⟹   XP_047294989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,351,817 - 39,385,700 (+)NCBI
RefSeq Acc Id: XM_047439034   ⟹   XP_047294990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,344,125 - 39,384,888 (+)NCBI
RefSeq Acc Id: XM_047439035   ⟹   XP_047294991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,344,125 - 39,384,888 (+)NCBI
RefSeq Acc Id: XM_047439036   ⟹   XP_047294992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,351,817 - 39,384,888 (+)NCBI
RefSeq Acc Id: XM_054321349   ⟹   XP_054177324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,146,695 - 42,195,044 (+)NCBI
RefSeq Acc Id: XM_054321350   ⟹   XP_054177325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,146,695 - 42,195,044 (+)NCBI
RefSeq Acc Id: XM_054321351   ⟹   XP_054177326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,146,695 - 42,195,044 (+)NCBI
RefSeq Acc Id: XM_054321352   ⟹   XP_054177327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,146,695 - 42,195,044 (+)NCBI
RefSeq Acc Id: XM_054321353   ⟹   XP_054177328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,156,092 - 42,195,044 (+)NCBI
RefSeq Acc Id: XM_054321354   ⟹   XP_054177329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,156,092 - 42,189,977 (+)NCBI
RefSeq Acc Id: XM_054321355   ⟹   XP_054177330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,156,092 - 42,189,977 (+)NCBI
RefSeq Acc Id: XM_054321356   ⟹   XP_054177331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,156,092 - 42,189,165 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001290543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371494 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371495 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371497 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371499 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371500 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371502 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371503 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371504 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371506 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371507 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371509 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371510 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371511 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371512 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371513 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371514 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371515 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371516 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371517 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371518 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371519 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371520 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371521 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371522 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371523 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371524 (Get FASTA)   NCBI Sequence Viewer  
  NP_060498 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525359 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525362 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525364 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882408 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294983 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294984 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294985 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294986 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294987 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294988 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294989 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294990 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294991 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294992 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177324 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177325 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177327 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177330 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177331 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39652 (Get FASTA)   NCBI Sequence Viewer  
  AAH54518 (Get FASTA)   NCBI Sequence Viewer  
  AAH65211 (Get FASTA)   NCBI Sequence Viewer  
  AAH80641 (Get FASTA)   NCBI Sequence Viewer  
  ABQ85549 (Get FASTA)   NCBI Sequence Viewer  
  BAA91493 (Get FASTA)   NCBI Sequence Viewer  
  EAW56875 (Get FASTA)   NCBI Sequence Viewer  
  EAW56876 (Get FASTA)   NCBI Sequence Viewer  
  EAW56877 (Get FASTA)   NCBI Sequence Viewer  
  EAW56878 (Get FASTA)   NCBI Sequence Viewer  
  EAW56879 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000317224
  ENSP00000317224.5
  ENSP00000468891.1
  ENSP00000469620.1
  ENSP00000470237
  ENSP00000470237.1
  ENSP00000470821.1
  ENSP00000471509.1
  ENSP00000484229
  ENSP00000484229.1
GenBank Protein Q5PRF9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060498   ⟸   NM_018028
- Peptide Label: isoform a
- UniProtKB: A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q5PRF9 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290543   ⟸   NM_001303614
- Peptide Label: isoform b
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL),   Q66K25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525359   ⟸   XM_011527057
- Peptide Label: isoform X1
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525364   ⟸   XM_011527062
- Peptide Label: isoform X1
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525362   ⟸   XM_011527060
- Peptide Label: isoform X1
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882408   ⟸   XM_017026919
- Peptide Label: isoform X1
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000471509   ⟸   ENST00000596368
Ensembl Acc Id: ENSP00000470237   ⟸   ENST00000598913
Ensembl Acc Id: ENSP00000468891   ⟸   ENST00000598605
Ensembl Acc Id: ENSP00000484229   ⟸   ENST00000610417
Ensembl Acc Id: ENSP00000469620   ⟸   ENST00000599712
Ensembl Acc Id: ENSP00000482861   ⟸   ENST00000611159
Ensembl Acc Id: ENSP00000470821   ⟸   ENST00000600018
Ensembl Acc Id: ENSP00000469404   ⟸   ENST00000602243
Ensembl Acc Id: ENSP00000317224   ⟸   ENST00000314471
RefSeq Acc Id: NP_001371523   ⟸   NM_001384594
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371514   ⟸   NM_001384585
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371507   ⟸   NM_001384578
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371511   ⟸   NM_001384582
- Peptide Label: isoform b
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371497   ⟸   NM_001384568
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371522   ⟸   NM_001384593
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371502   ⟸   NM_001384573
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371510   ⟸   NM_001384581
- Peptide Label: isoform b
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371499   ⟸   NM_001384570
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371500   ⟸   NM_001384571
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371515   ⟸   NM_001384586
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371517   ⟸   NM_001384588
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371516   ⟸   NM_001384587
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371505   ⟸   NM_001384576
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371509   ⟸   NM_001384580
- Peptide Label: isoform b
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371520   ⟸   NM_001384591
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371504   ⟸   NM_001384575
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371513   ⟸   NM_001384584
- Peptide Label: isoform b
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371495   ⟸   NM_001384566
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371524   ⟸   NM_001384595
- Peptide Label: isoform d
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371518   ⟸   NM_001384589
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371503   ⟸   NM_001384574
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371512   ⟸   NM_001384583
- Peptide Label: isoform b
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371519   ⟸   NM_001384590
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371494   ⟸   NM_001384565
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371498   ⟸   NM_001384569
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371521   ⟸   NM_001384592
- Peptide Label: isoform c
- UniProtKB: Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371506   ⟸   NM_001384577
- Peptide Label: isoform a
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot),   Q66K25 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047294983   ⟸   XM_047439027
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047294984   ⟸   XM_047439028
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047294986   ⟸   XM_047439030
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294987   ⟸   XM_047439031
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294985   ⟸   XM_047439029
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294991   ⟸   XM_047439035
- Peptide Label: isoform X2
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047294990   ⟸   XM_047439034
- Peptide Label: isoform X2
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047294989   ⟸   XM_047439033
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294988   ⟸   XM_047439032
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047294992   ⟸   XM_047439036
- Peptide Label: isoform X2
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177325   ⟸   XM_054321350
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177326   ⟸   XM_054321351
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177324   ⟸   XM_054321349
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177327   ⟸   XM_054321352
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177328   ⟸   XM_054321353
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177330   ⟸   XM_054321355
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177329   ⟸   XM_054321354
- Peptide Label: isoform X2
- UniProtKB: Q5PRF9 (UniProtKB/Swiss-Prot),   A5Z0M6 (UniProtKB/Swiss-Prot),   Q6P194 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054177331   ⟸   XM_054321356
- Peptide Label: isoform X2
- UniProtKB: M0QZ22 (UniProtKB/TrEMBL)
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5PRF9-F1-model_v2 AlphaFold Q5PRF9 1-694 view protein structure

Promoters
RGD ID:7239897
Promoter ID:EPDNEW_H25694
Type:initiation region
Name:SAMD4B_1
Description:sterile alpha motif domain containing 4B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,342,431 - 39,342,491EPDNEW
RGD ID:6796016
Promoter ID:HG_KWN:29891
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018028,   UC002OLA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361944,524,341 - 44,524,972 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25492 AgrOrtholog
COSMIC SAMD4B COSMIC
Ensembl Genes ENSG00000179134 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000314471 ENTREZGENE
  ENST00000314471.10 UniProtKB/Swiss-Prot
  ENST00000596368.1 UniProtKB/TrEMBL
  ENST00000598605.1 UniProtKB/TrEMBL
  ENST00000598913 ENTREZGENE
  ENST00000598913.5 UniProtKB/TrEMBL
  ENST00000599712.1 UniProtKB/TrEMBL
  ENST00000600018.1 UniProtKB/TrEMBL
  ENST00000610417 ENTREZGENE
  ENST00000610417.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179134 GTEx
HGNC ID HGNC:25492 ENTREZGENE
Human Proteome Map SAMD4B Human Proteome Map
InterPro PHAT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAUG/VTS1_RNA-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Smaug_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55095 UniProtKB/Swiss-Prot
NCBI Gene 55095 ENTREZGENE
OMIM 619231 OMIM
PANTHER PROTEIN SMAUG HOMOLOG 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STERILE ALPHA MOTIF DOMAIN CONTAINING PROTEIN 4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485607 PharmGKB
SMART SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5Z0M6 ENTREZGENE
  M0QX45_HUMAN UniProtKB/TrEMBL
  M0QY61_HUMAN UniProtKB/TrEMBL
  M0QZ22 ENTREZGENE, UniProtKB/TrEMBL
  M0QZW7_HUMAN UniProtKB/TrEMBL
  M0R0X3_HUMAN UniProtKB/TrEMBL
  Q5PRF9 ENTREZGENE
  Q66K25 ENTREZGENE, UniProtKB/TrEMBL
  Q6P194 ENTREZGENE
  Q8IXP7_HUMAN UniProtKB/TrEMBL
  SMAG2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5Z0M6 UniProtKB/Swiss-Prot
  Q6P194 UniProtKB/Swiss-Prot